(used for variant description)
(last modified September 8, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_000919.3 in the PAM gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029444.2, covering PAM transcript NM_000919.3.
(upstream sequence)
. g.116053
gttctgaatgatg c.-361
. . . . . . g.116113
actgacgcgggtttgggtgatacccctcacagcccctgtcattccggagtcataaggcac c.-301
. . . . . . g.116173
ccgcgcgtctagccccagcgccagggcacgcgagcggcgctggagggaggaaagcttccg c.-241
. . . . . . g.116233
cctgcgggccggacaaaagtcccgcctgcccacggctttttgcccgccgctcgtgaccga c.-181
. . . . . . g.116293
gacgcctcgccgcggccagctcgctgctctcgctggcggatggtgtgtggccgccgcagg c.-121
. . . . . . g.116353
acgcccgccgtgcccgggccatgaagtagcggctgctggcggcgccgctgcccaaccgcc c.-61
. . . . . . g.116413
agccccagccccgcgctgcgctgcccggtcctctcccggcggggtcgtatcggcgtggac c.-1
. . . . . . g.116473
ATGGCTGGCCGCGTCCCTAGCCTGCTAGTTCTCCTTGTTTTTCCAAGCAGCTGTTTGGCT c.60
M A G R V P S L L V L L V F P S S C L A p.20
. . | 02 . . . g.117521
TTCCGAAGCCCACTTTCTGTCTTTAAGAG | GTTTAAAGAAACTACCAGACCATTTTCCAAT c.120
F R S P L S V F K R | F K E T T R P F S N p.40
. . . . . . g.117581
GAATGTCTTGGTACCACCAGACCCGTAGTTCCTATTGATTCATCAGATTTTGCATTGGAT c.180
E C L G T T R P V V P I D S S D F A L D p.60
. . . | 03 . . . g.151603
ATTCGCATGCCTGGGGTTACACCTAAACAG | TCCGATACATACTTCTGCATGTCTATGCGA c.240
I R M P G V T P K Q | S D T Y F C M S M R p.80
. . | 04 . . . g.164183
ATACCAGTGGATGAGGAAGCCTTCGTGA | TTGACTTCAAGCCTCGAGCCAGCATGGATACT c.300
I P V D E E A F V I | D F K P R A S M D T p.100
. . . . . | 05 . g.175178
GTCCATCACATGTTACTTTTTGGATGCAATATGCCTTCATCCACTGGAAGTTACTG | GTTT c.360
V H H M L L F G C N M P S S T G S Y W | F p.120
. . . . . . g.175238
TGTGATGAAGGAACCTGTACAGATAAAGCCAATATTCTGTATGCCTGGGCGAGAAATGCT c.420
C D E G T C T D K A N I L Y A W A R N A p.140
. . | 06 . . . . g.176840
CCCCCTACCCGGCTCCCCAAAG | GTGTTGGATTCAGAGTTGGAGGAGAGACTGGAAGTAAA c.480
P P T R L P K G | V G F R V G G E T G S K p.160
. . . . | 07 . . g.197068
TACTTTGTACTACAGGTACACTATGGGGATATTAGTGCTTTTAGAG | ATAATAACAAGGAC c.540
Y F V L Q V H Y G D I S A F R D | N N K D p.180
. . . | 08 . . . g.198620
TGTTCTGGTGTGTCCTTACACCTCACACGTCTGCC | ACAGCCTTTAATTGCTGGCATGTAC c.600
C S G V S L H L T R L P | Q P L I A G M Y p.200
. . . . | 09 . . g.199771
CTTATGATGTCTGTTGACACTGTTATCCCAGCAGGAGAAAAAG | TGGTGAATTCTGACATT c.660
L M M S V D T V I P A G E K V | V N S D I p.220
. . . . . . g.199831
TCATGCCATTATAAAAATTATCCAATGCATGTCTTTGCCTATAGAGTTCACACTCACCAT c.720
S C H Y K N Y P M H V F A Y R V H T H H p.240
| 10 . . . . . . g.200175
TTAG | GTAAGGTAGTAAGTGGATACAGAGTAAGAAATGGACAGTGGACACTGATTGGACGG c.780
L G | K V V S G Y R V R N G Q W T L I G R p.260
. . | 11 . . . . g.200973
CAGAGCCCTCAGCTGCCACAG | GCTTTCTACCCTGTGGGGCATCCAGTTGATGTAAGTTTT c.840
Q S P Q L P Q | A F Y P V G H P V D V S F p.280
. . . . . . g.201033
GGTGACCTACTGGCTGCAAGATGTGTATTCACTGGTGAAGGAAGGACAGAAGCCACACAC c.900
G D L L A A R C V F T G E G R T E A T H p.300
| 12 . . . . . . g.210147
ATTGG | TGGCACGTCTAGTGATGAAATGTGCAACTTATACATTATGTATTACATGGAAGCC c.960
I G | G T S S D E M C N L Y I M Y Y M E A p.320
. . . . . . g.210207
AAGCATGCAGTTTCTTTCATGACCTGTACCCAGAATGTAGCTCCAGATATGTTCAGAACC c.1020
K H A V S F M T C T Q N V A P D M F R T p.340
. . . . . . g.210267
ATACCACCAGAGGCCAACATTCCAATTCCCGTGAAGTCTGATATGGTTATGATGCATGAA c.1080
I P P E A N I P I P V K S D M V M M H E p.360
. | 13 . . . . . g.211425
CATCATAAAG | AAACAGAATATAAAGATAAGATTCCTTTACTACAGCAGCCAAAACGAGAA c.1140
H H K E | T E Y K D K I P L L Q Q P K R E p.380
. . | 14 . . . . g.224371
GAAGAAGAAGTGTTAGACCAGG | GTGATTTCTATTCACTACTTTCCAAGCTGCTAGGAGAA c.1200
E E E V L D Q G | D F Y S L L S K L L G E p.400
. . . . . . g.224431
AGGGAAGATGTTGTTCATGTGCACAAATATAATCCTACAGAAAAGGCAGAATCAGAGTCA c.1260
R E D V V H V H K Y N P T E K A E S E S p.420
. . . . . . g.224491
GACCTGGTAGCTGAGATTGCAAATGTAGTCCAAAAAAAGGATCTTGGTCGATCTGATGCC c.1320
D L V A E I A N V V Q K K D L G R S D A p.440
. . . . . . g.224551
AGAGAGGGTGCAGAACATGAGAGGGGTAATGCTATTCTTGTCAGAGACAGAATTCACAAA c.1380
R E G A E H E R G N A I L V R D R I H K p.460
. . . . . . g.224611
TTCCACAGACTAGTATCTACCTTGAGGCCACCAGAGAGCAGAGTTTTCTCATTACAGCAG c.1440
F H R L V S T L R P P E S R V F S L Q Q p.480
. . . . | 15 . . g.240506
CCCCCACCTGGTGAAGGCACCTGGGAACCAGAACACACAGGAG | ATTTCCACATGGAAGAG c.1500
P P P G E G T W E P E H T G D | F H M E E p.500
. . . . . . g.240566
GCACTGGATTGGCCTGGAGTATACTTGTTACCAGGCCAGGTTTCTGGGGTGGCTCTAGAC c.1560
A L D W P G V Y L L P G Q V S G V A L D p.520
. . . . . | 16 . g.253257
CCTAAGAATAACCTGGTGATTTTCCACAGAGGTGACCATGTCTGGGATGGAAA | CTCGTTT c.1620
P K N N L V I F H R G D H V W D G N | S F p.540
. . . . . . g.253317
GACAGCAAGTTTGTTTACCAGCAAATAGGACTCGGACCAATTGAAGAAGACACTATTCTT c.1680
D S K F V Y Q Q I G L G P I E E D T I L p.560
. . . . . | 17 . g.255381
GTCATAGATCCAAATAATGCTGCAGTACTCCAGTCCAGTGGAAAAAATCT | GTTTTACTTG c.1740
V I D P N N A A V L Q S S G K N L | F Y L p.580
. . . . . . g.255441
CCACATGGCTTGAGTATAGATAAAGATGGGAATTATTGGGTCACAGACGTGGCTCTCCAT c.1800
P H G L S I D K D G N Y W V T D V A L H p.600
| 18 . . . . . . g.257075
CAG | GTGTTCAAACTGGATCCAAACAATAAAGAAGGCCCTGTATTAATCCTGGGAAGGAGC c.1860
Q | V F K L D P N N K E G P V L I L G R S p.620
. . . . . . g.257135
ATGCAACCAGGCAGTGACCAGAATCACTTCTGTCAACCCACTGATGTGGCTGTGGATCCA c.1920
M Q P G S D Q N H F C Q P T D V A V D P p.640
. . . . . . g.257195
GGCACTGGAGCCATTTATGTATCAGATGGTTACTGCAACAGCAGGATTGTGCAGTTTTCA c.1980
G T G A I Y V S D G Y C N S R I V Q F S p.660
. . . | 19 . . . g.257700
CCAAGTGGAAAGTTCATCACACAGTGGGGAGAAG | AGTCTTCAGGGAGCAGTCCTCTGCCA c.2040
P S G K F I T Q W G E E | S S G S S P L P p.680
. . . . . . g.257760
GGCCAGTTCACTGTTCCTCACAGCTTGGCTCTTGTGCCTCTTTTGGGCCAATTATGTGTG c.2100
G Q F T V P H S L A L V P L L G Q L C V p.700
. . . . . . g.257820
GCAGACCGGGAAAATGGTCGGATCCAGTGTTTTAAAACTGACACCAAAGAATTTGTGAGA c.2160
A D R E N G R I Q C F K T D T K E F V R p.720
. . . . . | 20 . g.259973
GAGATTAAGCATTCATCATTTGGAAGAAATGTATTTGCAATTTCATATATACCAG | GCTTG c.2220
E I K H S S F G R N V F A I S Y I P G | L p.740
. . . . . . g.260033
CTCTTTGCAGTGAATGGGAAGCCTCATTTTGGGGACCAAGAACCTGTACAAGGATTTGTG c.2280
L F A V N G K P H F G D Q E P V Q G F V p.760
. . . . . | 21 . g.267560
ATGAACTTTTCCAATGGGGAAATTATAGACATCTTCAAGCCAGTGCGCAAG | CACTTTGAT c.2340
M N F S N G E I I D I F K P V R K | H F D p.780
. . . . . . g.267620
ATGCCTCATGATATTGTTGCATCTGAAGATGGGACTGTGTACATTGGAGATGCTCATACC c.2400
M P H D I V A S E D G T V Y I G D A H T p.800
. . . | 22 . . . g.270036
AACACCGTGTGGAAGTTCACCTTGACTGAGA | AATTGGAACATCGATCAGTTAAAAAGGCT c.2460
N T V W K F T L T E K | L E H R S V K K A p.820
. . | 23 . . . . g.275383
GGCATTGAGGTCCAGGAAATCAAAG | AAGCCGAGGCAGTTGTTGAAACCAAAATGGAGAAC c.2520
G I E V Q E I K E | A E A V V E T K M E N p.840
. . . . . . g.275443
AAACCCACCTCCTCAGAATTGCAGAAGATGCAAGAGAAACAGAAACTGATCAAAGAGCCA c.2580
K P T S S E L Q K M Q E K Q K L I K E P p.860
. . . . . . g.275503
GGCTCGGGAGTGCCTGTTGTTCTCATTACAACCCTTCTGGTTATTCCGGTGGTTGTCCTG c.2640
G S G V P V V L I T T L L V I P V V V L p.880
. . . . | 24 . g.278410
CTGGCCATTGCCATATTTATTCGGTGGAAAAAATCAAGGGCCTTTGGAG | CAGATTCTGAA c.2700
L A I A I F I R W K K S R A F G A | D S E p.900
. . . . | 25 . . g.279118
CACAAACTCGAGACGAGTTCAGGAAGAGTACTGGGAAGATTTAGAG | GAAAGGGAAGTGGA c.2760
H K L E T S S G R V L G R F R G | K G S G p.920
. . . . . . g.279178
GGCTTAAACCTTGGTAATTTCTTTGCAAGCCGTAAGGGCTACAGTCGAAAAGGGTTTGAC c.2820
G L N L G N F F A S R K G Y S R K G F D p.940
. . . . . . g.279238
CGGCTTAGCACTGAGGGCAGTGACCAAGAGAAAGAGGATGATGGAAGTGAATCAGAAGAG c.2880
R L S T E G S D Q E K E D D G S E S E E p.960
. . . . g.279283
GAGTATTCAGCACCTCTGCCTGCGCTCGCACCTTCCTCCTCCTGA c.2925
E Y S A P L P A L A P S S S X p.974
. . . . . . g.279343
aaaccaagctttgatttagattgagtaagatttacccagaatgtcagattcctttccctt c.*60
. . . . . . g.279403
tagcacgtttaaagttctgtgtatttaattgtaaactgtactagtctgtgtgggactgta c.*120
. . . . . . g.279463
cacactttatttacttcgttttggttaagttggcttctgtttctagttgaggagtttcct c.*180
. . . . . . g.279523
aaaagttcataacagtgccattgtctttatatgaacatagactagagaaaccgtcctctt c.*240
. . . . . . g.279583
tttccatcataattctaatctaacaatggaagatttgcccatttacacttttgagacttt c.*300
. . . . . . g.279643
ttggtggatgtaaataaccccattctttgcttgaacacagtattttcccaatagcacttt c.*360
. . . . . . g.279703
cattgccagtgtctttctttggtgcctttcctgttcagcattcttagcctgtggcagtaa c.*420
. . . . . . g.279763
agagaaactttgtgctacatgacgacaaagctgctaaatctcctatttttttaaaatcac c.*480
. . . . . . g.279823
taacattatattgcaatgaaggaaataaaaaagtctctatttaaattcttttttaaattt c.*540
. . . . . . g.279883
tcttcagttggtgtgtttttgggatgtcttatttttagatggttacactgttagaacact c.*600
. . . . . . g.279943
attttcagaatctgaatgtaatttgtgtaataaagtgttttcagagcattagctgtcagt c.*660
. . . . . . g.280003
gtattttccagtttttgcgtatttgcagattttacatacaacttttataataattacaca c.*720
. . . . . . g.280063
aacccacaaatattagtgaaacttactcgatgtcttcaactaaaagaaatgtgtgtattg c.*780
. . . . . . g.280123
tacaaaatttagaagatactttagccaatataaattaaaaaccagcctgagtttacataa c.*840
. . . . . . g.280183
atttgtaaagtcaggctcttctaaaatccaaagagggtttttgcctatatatcaatcaga c.*900
. . . . . . g.280243
ggataaatactttaataaaaggtaatcacagctaagtggatacctgtgtctcaaattaca c.*960
. . . . . . g.280303
tatgcaaatgatccatcagtagggatcactaataatagttttccttttaaaaaataattt c.*1020
. . . . . . g.280363
cagggcaggtacagtggctcaagcctatacttccaggactttgggaggccaagcagaagg c.*1080
. . . . . . g.280423
attgtgggaggccaagcagaaggattgtttgagcccagaaattcaaggctgcagtgagct c.*1140
. . . . . . g.280483
atgatcaatccactgtactccagcctaggctacagagtgagatcctttctctaaaataaa c.*1200
. . . . . . g.280543
atacaatttccatgtatccataggaatatattcatcttttacagtgattgcagattagtt c.*1260
. . . . . . g.280603
ttaaaacgtctttttcgtaattcgtcaatgcaagttagtaagaaccagataattttccat c.*1320
. . . . . . g.280663
tttaaaatgataggaatctaaaactctttttcaaaaatgccaacctgtttttccggcatc c.*1380
. . . . . . g.280723
atagtagttggaataatacagatataattgactaatcataaagtacatgagagtacagaa c.*1440
. . . . . . g.280783
gggaaatttggaaacggtaagtctgctagggcattacaatcctgtcctagcactccacct c.*1500
. . . . . . g.280843
ttattctgccaacctgggttaattaaagatggtagcctggaaagtaatgaatgacattga c.*1560
. . . . . . g.280903
cttcaggcaatctttccactgattattcttggctgaacttcatttatcgagtcagagaat c.*1620
. . . . . . g.280963
gcactgcctgagaaatgtcccagaggagtgaatcctaggcctggccacagtagaatcgcc c.*1680
. . . . . . g.281023
tggagaatttaagaaaaaaattgttgggcactcactctttccagtgatctttatttagtt c.*1740
. . . . . . g.281083
ggcttacaatggaatacaggtatggttcatgtttttaaatttgtccaggtgtttctattg c.*1800
. . . . . . g.281143
tgcagtcacagttgaaaaccattgtcttcgagaatagctattctatcttgccagttacaa c.*1860
. . . . . . g.281203
taagtggatagctatattttcacataaattatagtttacagatgtttggagggggaagac c.*1920
. . . . . . g.281263
aggatctgaggtgttttgatatgactgttagcaccaaaatctgaatgccttaattgttga c.*1980
. . . . . . g.281323
atgtgttaaattggataattaaaatgggcataaatgacttattaaaaaagcaaagggaaa c.*2040
(downstream sequence)
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