(used for variant description)
(last modified December 28, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_017654.3 in the SAMD9 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering SAMD9 transcript NM_017654.3.
(upstream sequence)
. . . g.5030
gacagaagcagagaatacatagacttccgt c.-241
. . . . . . g.5090
taaaaccagaatgaggaaaatacttttctctagcatcgtaggaggaagaaaacaaacaca c.-181
. . . . . . g.5150
tcagatattttcagcactaaaagagatggttttccccacatatatgtaaaagaaatttgc c.-121
. . | 02 . . . . g.8177
aagactactgg | attttgatctcatggttgcagtgggtgaataggtggccttttgtgatct c.-61
. . . . . . | 03 g.16926
cctacatcaccctggaagtgagacttcttcggtttcttctagagtcagtttg | gtatcaga c.-1
. . . . . . g.16986
ATGGCAAAGCAACTTAACCTTCCAGAAAATACAGATGATTGGACAAAAGAGGATGTAAAT c.60
M A K Q L N L P E N T D D W T K E D V N p.20
. . . . . . g.17046
CAGTGGTTAGAAAGTCATAAGATTGACCAAAAACACAGGGAAATTTTGACTGAACAAGAC c.120
Q W L E S H K I D Q K H R E I L T E Q D p.40
. . . . . . g.17106
GTGAATGGAGCAGTCTTGAAGTGGTTAAAAAAAGAACATCTTGTTGATATGGGCATCACA c.180
V N G A V L K W L K K E H L V D M G I T p.60
. . . . . . g.17166
CATGGACCAGCTATTCAAATAGAAGAACTATTCAAAGAATTGCGGAAAACAGCCATTGAA c.240
H G P A I Q I E E L F K E L R K T A I E p.80
. . . . . . g.17226
GATTCGATTCAGACATCTAAGATGGGAAAGCCCAGTAAAAATGCTCCTAAAGACCAAACT c.300
D S I Q T S K M G K P S K N A P K D Q T p.100
. . . . . . g.17286
GTGTCTCAAAAGGAACGTAGAGAAACTTCAAAGCAAAAACAAAAGGGTAAAGAGAACCCA c.360
V S Q K E R R E T S K Q K Q K G K E N P p.120
. . . . . . g.17346
GATATGGCTAATCCGTCTGCAATGAGTACAACTGCTAAAGGTTCTAAGTCACTAAAAGTT c.420
D M A N P S A M S T T A K G S K S L K V p.140
. . . . . . g.17406
GAGCTCATAGAAGATAAAATAGATTATACAAAGGAAAGGCAACCATCCATAGACCTGACA c.480
E L I E D K I D Y T K E R Q P S I D L T p.160
. . . . . . g.17466
TGTGTATCATATCCATTTGATGAATTCAGTAATCCATATCGTTACAAGTTGGATTTTAGT c.540
C V S Y P F D E F S N P Y R Y K L D F S p.180
. . . . . . g.17526
CTACAGCCTGAAACAGGACCAGGCAATCTCATTGATCCGATACATGAATTCAAAGCCTTC c.600
L Q P E T G P G N L I D P I H E F K A F p.200
. . . . . . g.17586
ACAAATACAGCAACAGCCACAGAAGAGGATGTCAAGATGAAATTTAGCAATGAGGTTTTC c.660
T N T A T A T E E D V K M K F S N E V F p.220
. . . . . . g.17646
CGATTTGCTTCAGCTTGTATGAATTCACGTACCAATGGCACTATTCATTTTGGAGTCAAA c.720
R F A S A C M N S R T N G T I H F G V K p.240
. . . . . . g.17706
GACAAACCCCATGGGAAAATTGTTGGCATCAAAGTCACCAATGATACCAAGGAAGCCCTC c.780
D K P H G K I V G I K V T N D T K E A L p.260
. . . . . . g.17766
ATTAACCATTTCAATCTGATGATAAACAAGTATTTTGAAGACCATCAAGTCCAACAAGCA c.840
I N H F N L M I N K Y F E D H Q V Q Q A p.280
. . . . . . g.17826
AAGAAGTGCATTCGAGAGCCAAGATTTGTGGAAGTTTTACTGCCAAATAGTACTCTATCT c.900
K K C I R E P R F V E V L L P N S T L S p.300
. . . . . . g.17886
GACAGATTTGTTATTGAAGTGGACATTATTCCACAGTTCTCTGAATGCCAATATGATTAT c.960
D R F V I E V D I I P Q F S E C Q Y D Y p.320
. . . . . . g.17946
TTCCAGATTAAAATGCAAAATTACAACAACAAAATATGGGAACAAAGTAAAAAATTCTCA c.1020
F Q I K M Q N Y N N K I W E Q S K K F S p.340
. . . . . . g.18006
CTATTTGTGCGAGATGGGACCAGCTCTAAGGACATTACGAAAAATAAAGTTGATTTCAGA c.1080
L F V R D G T S S K D I T K N K V D F R p.360
. . . . . . g.18066
GCATTTAAAGCAGATTTTAAAACACTGGCAGAGTCCAGAAAAGCAGCAGAAGAAAAATTC c.1140
A F K A D F K T L A E S R K A A E E K F p.380
. . . . . . g.18126
AGAGCAAAAACAAATAAAAAAGAAAGAGAGGGACCAAAGTTGGTTAAATTATTGACAGGA c.1200
R A K T N K K E R E G P K L V K L L T G p.400
. . . . . . g.18186
AATCAAGATTTGTTAGATAATTCATACTATGAACAGTACATTCTTGTAACAAATAAATGC c.1260
N Q D L L D N S Y Y E Q Y I L V T N K C p.420
. . . . . . g.18246
CACCCAGATCAAACAAAACACTTAGATTTCCTGAAGGAAATTAAATGGTTTGCTGTATTG c.1320
H P D Q T K H L D F L K E I K W F A V L p.440
. . . . . . g.18306
GAGTTTGATCCTGAGTCTAACATCAATGGAGTGGTCAAAGCTTACAAAGAAAGCCGAGTA c.1380
E F D P E S N I N G V V K A Y K E S R V p.460
. . . . . . g.18366
GCAAACCTTCACTTTCCAAGTGTATATGTAGAACAGAAAACCACACCAAATGAGACGATT c.1440
A N L H F P S V Y V E Q K T T P N E T I p.480
. . . . . . g.18426
TCTACTCTAAATCTTTACCATCAACCCAGCTGGATTTTCTGCAATGGCAGGTTAGACCTT c.1500
S T L N L Y H Q P S W I F C N G R L D L p.500
. . . . . . g.18486
GACAGTGAAAAATATAAACCCTTTGATCCAAGTTCCTGGCAAAGAGAAAGAGCTTCTGAT c.1560
D S E K Y K P F D P S S W Q R E R A S D p.520
. . . . . . g.18546
GTCAGGAAACTGATTTCATTTCTTACACATGAAGACATAATGCCAAGAGGGAAGTTTTTG c.1620
V R K L I S F L T H E D I M P R G K F L p.540
. . . . . . g.18606
GTGGTATTTCTATTACTGTCCTCTGTGGATGACCCAAGAGATCCCCTCATTGAGACTTTC c.1680
V V F L L L S S V D D P R D P L I E T F p.560
. . . . . . g.18666
TGTGCTTTCTACCAGGATCTCAAAGGAATGGAAAATATACTGTGTATTTGTGTGCACCCA c.1740
C A F Y Q D L K G M E N I L C I C V H P p.580
. . . . . . g.18726
CACATATTTCAGGGATGGAAAGATCTACTTGAAGCAAGATTAATAAAACACCAAGATGAA c.1800
H I F Q G W K D L L E A R L I K H Q D E p.600
. . . . . . g.18786
ATTTCAAGCCAATGTATTTCTGCTTTAAGCCTTGAAGAGATCAATGGCACTATTCTTAAA c.1860
I S S Q C I S A L S L E E I N G T I L K p.620
. . . . . . g.18846
CTAAAATCTGTGACTCAATCTTCAAAAAGGCTTTTGCCATCTATTGGTTTATCGACTGTC c.1920
L K S V T Q S S K R L L P S I G L S T V p.640
. . . . . . g.18906
CTTCTGAAAAAGGAAGAAGATATCATGACTGCTCTGGAAATTATCTGTGAAAATGAATGT c.1980
L L K K E E D I M T A L E I I C E N E C p.660
. . . . . . g.18966
GAGGGTACACTGTTAGAGAAGGACAAAAATAAATTCCTTGAATTCAAGGCATCAAAAGAG c.2040
E G T L L E K D K N K F L E F K A S K E p.680
. . . . . . g.19026
GAAGACTTCTATCGAGGTGGCAAAGTGTCATGGTGGAACTTCTACTTCTCTTCTGAAAGT c.2100
E D F Y R G G K V S W W N F Y F S S E S p.700
. . . . . . g.19086
TATTCTTCACCTTTTGTCAAAAGGGATAAATATGAAAGACTTGAAGCAATGATTCAAAAC c.2160
Y S S P F V K R D K Y E R L E A M I Q N p.720
. . . . . . g.19146
TGTGCAGATTCTTCTAAACCAACAAGTACCAAAATTATTCATCTGTATCATCATCCAGGC c.2220
C A D S S K P T S T K I I H L Y H H P G p.740
. . . . . . g.19206
TGTGGGGGAACTACCTTGGCTATGCACATTCTCTGGGAACTAAGGAAGAAATTCAGATGT c.2280
C G G T T L A M H I L W E L R K K F R C p.760
. . . . . . g.19266
GCTGTGCTGAAAAACAAGACAGTGGATTTTTCTGAAATTGGAGAACAGGTAACCAGTTTA c.2340
A V L K N K T V D F S E I G E Q V T S L p.780
. . . . . . g.19326
ATCACCTATGGGGCAATGAACCGTCAGGAATACGTACCTGTACTACTCCTTGTTGATGAT c.2400
I T Y G A M N R Q E Y V P V L L L V D D p.800
. . . . . . g.19386
TTTGAAGAACAAGATAATGTCTATCTTCTGCAGTACTCTATTCAAACAGCTATAGCTAAA c.2460
F E E Q D N V Y L L Q Y S I Q T A I A K p.820
. . . . . . g.19446
AAGTACATTCGATATGAAAAACCTCTGGTGATTATCCTAAATTGTATGAGATCACAAAAT c.2520
K Y I R Y E K P L V I I L N C M R S Q N p.840
. . . . . . g.19506
CCTGAAAAAAGTGCAAGGATCCCAGACAGTATTGCCGTAATACAGCAACTCTCTCCCAAA c.2580
P E K S A R I P D S I A V I Q Q L S P K p.860
. . . . . . g.19566
GAACAGAGAGCTTTTGAGCTTAAATTGAAAGAAATCAAAGAACAGCATAAAAACTTTGAG c.2640
E Q R A F E L K L K E I K E Q H K N F E p.880
. . . . . . g.19626
GATTTTTATTCCTTTATGATCATGAAAACCAATTTTAATAAAGAATACATAGAAAATGTG c.2700
D F Y S F M I M K T N F N K E Y I E N V p.900
. . . . . . g.19686
GTCCGGAATATCCTGAAAGGGCAGAATATTTTCACCAAGGAAGCAAAGCTCTTTTCTTTT c.2760
V R N I L K G Q N I F T K E A K L F S F p.920
. . . . . . g.19746
CTGGCTCTTCTTAATTCATATGTGCCTGATACCACCATTTCACTATCACAGTGTGAAAAA c.2820
L A L L N S Y V P D T T I S L S Q C E K p.940
. . . . . . g.19806
TTCTTAGGAATTGGAAACAAGAAGGCTTTCTGGGGGACAGAAAAATTTGAAGACAAGATG c.2880
F L G I G N K K A F W G T E K F E D K M p.960
. . . . . . g.19866
GGCACCTACTCTACAATTCTGATAAAAACAGAGGTCATCGAATGTGGGAACTACTGTGGA c.2940
G T Y S T I L I K T E V I E C G N Y C G p.980
. . . . . . g.19926
GTACGCATCATTCACTCTTTGATTGCAGAGTTCTCACTGGAAGAATTGAAGAAAAGCTAT c.3000
V R I I H S L I A E F S L E E L K K S Y p.1000
. . . . . . g.19986
CACCTGAATAAAAGTCAAATTATGTTGGATATGCTAACTGAGAATTTGTTCTTCGATACT c.3060
H L N K S Q I M L D M L T E N L F F D T p.1020
. . . . . . g.20046
GGTATGGGAAAAAGTAAATTTTTGCAAGATATGCACACACTCCTACTCACAAGACACCGC c.3120
G M G K S K F L Q D M H T L L L T R H R p.1040
. . . . . . g.20106
GATGAACATGAAGGTGAAACAGGAAATTGGTTTTCCCCATTTATTGAAGCATTACATAAA c.3180
D E H E G E T G N W F S P F I E A L H K p.1060
. . . . . . g.20166
GATGAAGGAAATGAAGCAGTTGAAGCTGTATTGCTTGAAAGTATCCATCGGTTCAACCCA c.3240
D E G N E A V E A V L L E S I H R F N P p.1080
. . . . . . g.20226
AATGCATTCATTTGCCAAGCGTTGGCAAGACATTTCTACATTAAAAAGAAGGACTTTGGC c.3300
N A F I C Q A L A R H F Y I K K K D F G p.1100
. . . . . . g.20286
AATGCTCTAAACTGGGCAAAACAAGCAAAAATCATAGAACCTGACAATTCTTATATCTCA c.3360
N A L N W A K Q A K I I E P D N S Y I S p.1120
. . . . . . g.20346
GATACACTGGGTCAAGTCTACAAAAGTAAAATAAGATGGTGGATAGAGGAAAACGGAGGA c.3420
D T L G Q V Y K S K I R W W I E E N G G p.1140
. . . . . . g.20406
AACGGGAACATTTCAGTTGATGATCTAATTGCTCTTTTGGATTTAGCAGAACATGCCTCA c.3480
N G N I S V D D L I A L L D L A E H A S p.1160
. . . . . . g.20466
AGTGCATTCAAAGAATCTCAACAGCAAAGTGAAGATAGAGAGTATGAAGTGAAGGAAAGA c.3540
S A F K E S Q Q Q S E D R E Y E V K E R p.1180
. . . . . . g.20526
TTGTATCCGAAGTCAAAAAGGCGGTATGATACTTACAATATAGCTGGTTATCAAGGAGAG c.3600
L Y P K S K R R Y D T Y N I A G Y Q G E p.1200
. . . . . . g.20586
ATAGAAGTTGGGCTTTACACAATCCAAATTCTCCAGCTCATTCCTTTTTTTGATAATAAA c.3660
I E V G L Y T I Q I L Q L I P F F D N K p.1220
. . . . . . g.20646
AATGAGCTATCTAAAAGATATATGGTCAATTTTGTATCAGGAAGTAGTGATATTCCAGGG c.3720
N E L S K R Y M V N F V S G S S D I P G p.1240
. . . . . . g.20706
GATCCAAACAATGAATATAAATTAGCCCTCAAAAACTATATTCCTTATTTAACTAAATTG c.3780
D P N N E Y K L A L K N Y I P Y L T K L p.1260
. . . . . . g.20766
AAATTTTCTTTGAAAAAGTCCTTTGATTTTTTTGATGAATACTTTGTCCTGCTAAAACCC c.3840
K F S L K K S F D F F D E Y F V L L K P p.1280
. . . . . . g.20826
AGGAACAATATTAAGCAAAATGAAGAGGCCAAAACTCGGAGAAAGGTGGCTGGATATTTT c.3900
R N N I K Q N E E A K T R R K V A G Y F p.1300
. . . . . . g.20886
AAGAAATATGTAGATATATTTTGTCTCTTAGAAGAATCACAAAACAACACAGGTCTTGGA c.3960
K K Y V D I F C L L E E S Q N N T G L G p.1320
. . . . . . g.20946
TCAAAGTTCAGTGAGCCACTTCAAGTAGAGAGATGCAGGAGAAACCTAGTAGCTTTAAAA c.4020
S K F S E P L Q V E R C R R N L V A L K p.1340
. . . . . . g.21006
GCAGACAAGTTTTCTGGGCTCTTGGAATATCTTATCAAAAGTCAAGAGGATGCTATAAGC c.4080
A D K F S G L L E Y L I K S Q E D A I S p.1360
. . . . . . g.21066
ACTATGAAATGTATAGTGAACGAATATACTTTTCTCTTAGAACAATGCACTGTCAAAATC c.4140
T M K C I V N E Y T F L L E Q C T V K I p.1380
. . . . . . g.21126
CAGTCAAAAGAAAAGCTAAATTTCATCTTGGCCAACATTATTCTCTCCTGTATCCAACCT c.4200
Q S K E K L N F I L A N I I L S C I Q P p.1400
. . . . . . g.21186
ACCTCCAGATTAGTAAAGCCAGTTGAAAAACTAAAAGATCAGCTTCGAGAAGTCTTGCAA c.4260
T S R L V K P V E K L K D Q L R E V L Q p.1420
. . . . . . g.21246
CCAATAGGACTGACTTATCAGTTTTCAGAACCGTATTTTCTAGCTTCCCTCTTATTCTGG c.4320
P I G L T Y Q F S E P Y F L A S L L F W p.1440
. . . . . . g.21306
CCAGAAAATCAACAACTAGATCAACATTCTGAACAAATGAAAGAGTATGCTCAAGCACTA c.4380
P E N Q Q L D Q H S E Q M K E Y A Q A L p.1460
. . . . . . g.21366
AAAAATTCTTTCAAGGGGCAATATAAACATATGCATCGTACAAAGCAACCAATTGCATAT c.4440
K N S F K G Q Y K H M H R T K Q P I A Y p.1480
. . . . . . g.21426
TTCTTTCTTGGAAAAGGTAAAAGACTGGAAAGACTTGTTCACAAAGGAAAAATTGACCAG c.4500
F F L G K G K R L E R L V H K G K I D Q p.1500
. . . . . . g.21486
TGCTTTAAGAAGACACCAGATATTAATTCCTTGTGGCAGAGTGGAGATGTGTGGAAGGAG c.4560
C F K K T P D I N S L W Q S G D V W K E p.1520
. . . . . . g.21546
GAAAAAGTCCAAGAACTTTTGCTTCGTTTACAAGGTCGAGCTGAAAACAATTGTTTATAT c.4620
E K V Q E L L L R L Q G R A E N N C L Y p.1540
. . . . . . g.21606
ATAGAATATGGAATCAATGAAAAAATCACAATACCCATCACTCCCGCTTTTTTAGGTCAA c.4680
I E Y G I N E K I T I P I T P A F L G Q p.1560
. . . . . . g.21666
CTTAGAAGTGGCAGAAGCATAGAGAAGGTGTCTTTTTACCTGGGATTTTCCATTGGAGGC c.4740
L R S G R S I E K V S F Y L G F S I G G p.1580
. . . g.21696
CCACTTGCTTATGACATTGAAATTGTTTAA c.4770
P L A Y D I E I V X p.1589
. . . . . . g.21756
gagcctgatattcttcctccaagaatttgatctcagtacccatttaatttttttggactc c.*60
. . . . . . g.21816
aagatctatgctttaaaccggcaaggttatagatacagcctctagctcttcagatctgta c.*120
. . . . . . g.21876
catgcagtatttaatttcctcttaaacatgttatgagttctacaaagacaatagtgaaaa c.*180
. . . . . . g.21936
aggaaggagtgagatatatgaaaagtagcaaatatgttccttggtttggttaacatcatt c.*240
. . . . . . g.21996
gatgacaaaataataaggagctatgactggagtcaggagaagttagtgtaataagctggc c.*300
. . . . . . g.22056
tacacagaaccccactacttaccaggcatggattgaagaagattgtctactcaaatggca c.*360
. . . . . . g.22116
tttagacattagaatgtctgggaaaatatttctcaaagacagcaaaaacctctcaaactg c.*420
. . . . . . g.22176
aggagcaacatttattcttactaagcagatcatcaatgtatcatgtgcttggcactcaag c.*480
. . . . . . g.22236
gatcttccaaaacagaggaccaaccagtcttctgaaggtcatgcccacagaagtcatcag c.*540
. . . . . . g.22296
accttaccaaagtaggttggagaattagattgccttttcatgcagtgagattcagttaag c.*600
. . . . . . g.22356
caaaaatgaaatttgtctctatagctaattagcttatcaactcccctccaaacaaacaat c.*660
. . . . . . g.22416
taaaaaaaaaacatacagacactcaaattccacaagctaatgaacaaaagggactcttgt c.*720
. . . . . . g.22476
gagaagactaatgagtccctcatccagaagatgccaatgtactggcagattaacatacaa c.*780
. . . . . . g.22536
cctatgttttgaacaaaaacaaccagcgatacgtaatcaaaatgtaattttcccctaata c.*840
. . . . . . g.22596
aaattatggatatgggcagtcatcaatggctgccaaaaccattaagtggaaagctgatta c.*900
. . . . . . g.22656
aaaaacaaaaatttctaatggatttatcaaactgtcccaaatcctgataaatattaacat c.*960
. . . . . . g.22716
cacagaggaagaccagacattatgggcctggaagtactataggagtgcacacatcacccg c.*1020
. . . . . . g.22776
tgacatggtcttgccaaataattaaacctgaatttgatcaggtctctggatcttatttgc c.*1080
. . . . . . g.22836
aattcaaaagaaattttaaaaaaatcctactaacaccaccacaaatatgcaatcagcaat c.*1140
. . . . . . g.22896
atccagaaaggggaaattcacaggacaaaaacctggttttcttttttggtttcttcaacc c.*1200
. . . . . . g.22956
aaaaaagaaagaaattgcaaaggaccaaaaaaatgttggggaatctatacattataaggg c.*1260
. . . . . . g.23016
acttaacaactaaagggcaacatatagactttagatcctaatttgagcaaaatctaaaat c.*1320
. . . . . . g.23076
caattattaggcaatcagaaaaatttgaacacagactagatatttgaggatattaaggta c.*1380
. . . . . . g.23136
ctatattattgaagattccatggttatgttttttaaagagttcatgccttttagagatac c.*1440
. . . . . . g.23196
atactaaagtatttgtaaataaatgacatgatctagaatcagtaattttgtgtttggggt c.*1500
. . . . . . g.23256
gtgggggtggtgaaagggaagtagaaccgaaacaagattagtcctgagttaacaatggct c.*1560
. . . . . . g.23316
gcaagctggatacatggaattcagcacacttttctccctcttactgattatgcttttgaa c.*1620
. . . . . . g.23376
attttctcttgtaaaacatttagaaaacaaaaacaaaaaaaatgtgatttgtttctgtct c.*1680
. . . . . . g.23436
tcaaaatctcattagaattttttcactggaggaagattttcccttgcttctgcataaaat c.*1740
. . . . . . g.23496
tttaactccataacttataagctcactctttattgttactttctaattgacaaataaaaa c.*1800
. g.23511
ttgtatattatttat c.*1815
(downstream sequence)
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