(used for variant description)
(last modified October 31, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_015110.3 in the SMC5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering SMC5 transcript NM_015110.3.
(upstream sequence)
. . . . . g.5057
ggtaacagttcgcggcagttcgcgcgggagcggggcgcctgggtggatgggcgcttg c.-61
. . . . . . g.5117
ggcgcctgggctgccggacggtgggaacggaagtcgctgtgggacgctgaggaagccagg c.-1
. . . . . . g.5177
ATGGCGACTCCGAGCAAGAAGACGTCAACTCCAAGCCCCCAGCCTTCCAAGAGAGCTCTC c.60
M A T P S K K T S T P S P Q P S K R A L p.20
. . . . . . g.5237
CCGAGAGACCCTTCGTCGGAGGTCCCGAGCAAGAGGAAGAATTCGGCCCCGCAGCTGCCG c.120
P R D P S S E V P S K R K N S A P Q L P p.40
. . . . . . g.5297
CTGTTGCAGTCGTCCGGGCCTTTCGTGGAAGGCTCTATCGTCCGCATCTCGATGGAGAAC c.180
L L Q S S G P F V E G S I V R I S M E N p.60
| 02 . . . . . . g.10397
TTCCT | AACATATGATATTTGTGAAGTATCTCCTGGACCCCACTTGAATATGATCGTTGGA c.240
F L | T Y D I C E V S P G P H L N M I V G p.80
. . . . . . g.10457
GCCAATGGAACAGGGAAGTCGAGCATTGTGTGTGCCATTTGCCTTGGTTTAGCTGGAAAA c.300
A N G T G K S S I V C A I C L G L A G K p.100
. . | 03. . . . g.13994
CCTGCTTTCATGGGACGAGCAGATAAG | GTTGGGTTTTTTGTGAAGAGAGGATGTTCTAGA c.360
P A F M G R A D K | V G F F V K R G C S R p.120
. . | 04 . . . . g.23388
GGCATGGTTGAAATTGAATT | GTTCAGGGCTTCTGGAAATCTTGTAATCACCCGTGAGATT c.420
G M V E I E L | F R A S G N L V I T R E I p.140
. . . . . . g.23448
GATGTGGCAAAAAATCAGTCCTTTTGGTTCATCAACAAAAAATCTACAACCCAGAAAATA c.480
D V A K N Q S F W F I N K K S T T Q K I p.160
. . . . . . g.23508
GTGGAAGAGAAAGTTGCAGCCTTAAATATTCAAGTGGGGAATCTTTGCCAGTTTCTCCCT c.540
V E E K V A A L N I Q V G N L C Q F L P p.180
| 05 . . . . . . g.24586
CAG | GACAAAGTTGGAGAATTTGCTAAACTCAGCAAAATTGAACTCCTCGAAGCCACTGAA c.600
Q | D K V G E F A K L S K I E L L E A T E p.200
. . . . . . g.24646
AAGTCAATTGGTCCCCCAGAAATGCACAAATATCACTGTGAACTCAAAAACTTAAGGGAG c.660
K S I G P P E M H K Y H C E L K N L R E p.220
. | 06 . . . . g.26839
AAAGAAAAACAGCTCGAG | ACCTCATGCAAAGAGAAAACTGAGTATCTACAGAAAATGGTT c.720
K E K Q L E | T S C K E K T E Y L Q K M V p.240
. . . . . . g.26899
CAGAGGAATGAAAGATATAAACAAGATGTGGAGAGGTTCTATGAACGGAAGCGACATTTA c.780
Q R N E R Y K Q D V E R F Y E R K R H L p.260
. . . | 07 . . g.28481
GATTTAATTGAGATGCTTGAAGCAAAAAGGCCATGGGTG | GAATATGAAAATGTTCGTCAG c.840
D L I E M L E A K R P W V | E Y E N V R Q p.280
. . . . . . g.28541
GAATATGAAGAAGTAAAACTAGTTCGTGACCGAGTGAAGGAAGAGGTCAGAAAACTTAAA c.900
E Y E E V K L V R D R V K E E V R K L K p.300
. . . . . . g.28601
GAAGGGCAGATTCCTGTAACATGTCGAATTGAAGAAATGGAAAACGAGCGTCACAATTTG c.960
E G Q I P V T C R I E E M E N E R H N L p.320
. . | 08 . . . . g.32277
GAGGCTCGAATCAAAGAAAAG | GCAACAGATATTAAGGAGGCATCTCAAAAATGCAAACAG c.1020
E A R I K E K | A T D I K E A S Q K C K Q p.340
. . . | 09 . . . g.44031
AAGCAAGATGTTATAGAAAGGAAAGATAAACAT | ATTGAGGAACTTCAGCAGGCTTTAATA c.1080
K Q D V I E R K D K H | I E E L Q Q A L I p.360
. . . . . . g.44091
GTAAAGCAAAATGAAGAGCTTGACCGACAGAGGAGAATAGGTAATACCCGCAAAATGATA c.1140
V K Q N E E L D R Q R R I G N T R K M I p.380
. . . . . . g.44151
GAGGATTTGCAAAATGAACTAAAGACCACGGAAAACTGCGAGAATCTTCAGCCCCAGATT c.1200
E D L Q N E L K T T E N C E N L Q P Q I p.400
. . . . . . g.44211
GATGCCATTACAAATGATCTGAGACGGATTCAGGATGAAAAGGCATTATGTGAAGGCGAA c.1260
D A I T N D L R R I Q D E K A L C E G E p.420
. . . . | 10 . g.46095
ATAATTGATAAGCGAAGAGAGAGGGAAACTCTAGAGAAGGAGAAAAAGA | GTGTGGACGAT c.1320
I I D K R R E R E T L E K E K K S | V D D p.440
. . . . . . g.46155
CATATTGTACGTTTTGACAATCTTATGAATCAGAAGGAAGATAAGCTAAGACAGAGATTC c.1380
H I V R F D N L M N Q K E D K L R Q R F p.460
. . . . . . g.46215
CGTGACACGTATGATGCTGTTTTATGGCTAAGAAATAACAGAGACAAATTTAAACAAAGA c.1440
R D T Y D A V L W L R N N R D K F K Q R p.480
. . | 11 . . . . g.51321
GTCTGTGAGCCCATAATGCTCACG | ATCAATATGAAAGATAATAAAAATGCCAAATATATT c.1500
V C E P I M L T | I N M K D N K N A K Y I p.500
. . . . . . g.51381
GAAAATCATATTCCATCAAATGACTTAAGAGCCTTTGTATTTGAAAGTCAAGAAGATATG c.1560
E N H I P S N D L R A F V F E S Q E D M p.520
. | 12 . . . . g.60822
GAGGTTTTCCTCAAAGAG | GTTCGTGACAATAAAAAATTAAGAGTAAATGCTGTTATTGCT c.1620
E V F L K E | V R D N K K L R V N A V I A p.540
. . . . . | 13 . g.61491
CCCAAGAGTTCATATGCAGACAAAGCACCTTCAAGATCTTTGAATGAACTTAA | ACAATAC c.1680
P K S S Y A D K A P S R S L N E L K | Q Y p.560
. . . . . . g.61551
GGATTTTTCTCTTATTTGAGAGAATTATTTGATGCACCTGATCCTGTAATGAGTTACCTT c.1740
G F F S Y L R E L F D A P D P V M S Y L p.580
. . . . . . g.61611
TGCTGTCAGTATCATATTCATGAAGTTCCTGTAGGAACTGAAAAGACCAGAGAAAGAATT c.1800
C C Q Y H I H E V P V G T E K T R E R I p.600
| 14 . . . . . . g.64606
GAACGG | GTAATACAAGAAACCCGATTAAAACAGATTTATACAGCAGAAGAAAAGTATGTG c.1860
E R | V I Q E T R L K Q I Y T A E E K Y V p.620
. . . . . . g.64666
GTGAAAACTTCTTTTTATTCAAACAAAGTTATTTCTAGTAACACATCTCTAAAAGTAGCG c.1920
V K T S F Y S N K V I S S N T S L K V A p.640
. . . . . . g.64726
CAGTTTCTCACTGTCACTGTGGACCTAGAGCAGAGAAGACACTTAGAAGAACAGCTAAAG c.1980
Q F L T V T V D L E Q R R H L E E Q L K p.660
| 15 . . . . . . g.64892
| GAAATTCATAGAAAATTGCAAGCAGTGGATTCAGGGTTGATTGCCTTACGTGAAACAAGC c.2040
| E I H R K L Q A V D S G L I A L R E T S p.680
. . . . . . g.64952
AAACATCTGGAGCACAAAGACAATGAACTTAGACAAAAGAAGAAGGAGCTTCTTGAGAGA c.2100
K H L E H K D N E L R Q K K K E L L E R p.700
. . . . . | 16 . g.69531
AAAACCAAGAAAAGACAACTGGAACAAAAAATCAGTTCCAAACTAGGAAG | TTTAAAGCTG c.2160
K T K K R Q L E Q K I S S K L G S | L K L p.720
. . . . . . g.69591
ATGGAACAGGATACTTGCAATCTTGAAGAGGAAGAGCGAAAAGCAAGTACCAAAATCAAA c.2220
M E Q D T C N L E E E E R K A S T K I K p.740
. . . . . | 17 . g.70065
GAAATAAATGTTCAAAAAGCGAAACTTGTTACCGAATTAACAAACCTAATAAAG | ATTTGT c.2280
E I N V Q K A K L V T E L T N L I K | I C p.760
. . . . . . g.70125
ACTTCTTTGCATATACAAAAAGTAGATTTAATTCTCCAAAATACTACAGTGATCTCTGAG c.2340
T S L H I Q K V D L I L Q N T T V I S E p.780
. . . . . | 18. g.90185
AAGAACAAATTAGAATCAGATTATATGGCCGCATCTTCACAACTCCGTCTTACAGAG | CAA c.2400
K N K L E S D Y M A A S S Q L R L T E | Q p.800
. . . . . . g.90245
CATTTCATTGAATTGGATGAAAATAGACAGAGATTATTGCAGAAATGCAAGGAACTTATG c.2460
H F I E L D E N R Q R L L Q K C K E L M p.820
. . . . . . g.90305
AAAAGAGCTAGGCAAGTATGTAACCTGGGTGCAGAGCAGACTCTTCCTCAAGAATACCAG c.2520
K R A R Q V C N L G A E Q T L P Q E Y Q p.840
| 19 . . . . | 20 . g.93116
ACA | CAAGTACCCACCATTCCAAATGGACACAACTCCTCACTCCCCATG | GTTTTCCAAGAC c.2580
T | Q V P T I P N G H N S S L P M | V F Q D p.860
. . . . . . g.93176
CTTCCAAACACATTGGATGAAATTGATGCTTTATTAACTGAAGAAAGATCAAGAGCTTCC c.2640
L P N T L D E I D A L L T E E R S R A S p.880
. . | 21 . . . . g.93687
TGCTTCACGGGACTGAATCCTACA | ATTGTTCAGGAATATACAAAAAGAGAAGAAGAAATA c.2700
C F T G L N P T | I V Q E Y T K R E E E I p.900
. . . . . . g.93747
GAACAGTTAACTGAGGAACTAAAGGGAAAGAAAGTTGAACTAGATCAATACAGGGAAAAC c.2760
E Q L T E E L K G K K V E L D Q Y R E N p.920
| 22 . . . . . g.94008
ATTTCACAG | GTAAAAGAAAGGTGGCTTAATCCTTTAAAAGAGCTGGTAGAAAAAATTAAT c.2820
I S Q | V K E R W L N P L K E L V E K I N p.940
. . . . . . g.94068
GAAAAATTCAGCAATTTTTTTAGTTCCATGCAGTGTGCTGGTGAAGTTGATCTCCATACA c.2880
E K F S N F F S S M Q C A G E V D L H T p.960
| 23 . . . . . g.96203
GAAAATGAG | GAAGATTATGATAAATATGGAATTCGAATTAGAGTCAAATTTCGAAGTAGT c.2940
E N E | E D Y D K Y G I R I R V K F R S S p.980
. . . . . . g.96263
ACTCAACTGCATGAATTAACTCCTCATCATCAAAGTGGAGGTGAAAGAAGTGTTTCTACC c.3000
T Q L H E L T P H H Q S G G E R S V S T p.1000
. . . . . . g.96323
ATGTTATACTTGATGGCACTTCAGGAGCTAAATAGATGTCCATTCAGAGTAGTTGATGAA c.3060
M L Y L M A L Q E L N R C P F R V V D E p.1020
| 24 . . . . . g.96465
ATCAATCAG | GGAATGGACCCAATCAATGAACGGAGAGTGTTTGAAATGGTTGTAAATACT c.3120
I N Q | G M D P I N E R R V F E M V V N T p.1040
. . . . | 25 . . g.98244
GCCTGTAAAGAAAATACATCTCAATACTTTTTCATAACACCAAAG | CTCCTGCAAAATCTT c.3180
A C K E N T S Q Y F F I T P K | L L Q N L p.1060
. . . . . . g.98304
CCTTATTCTGAAAAGATGACAGTTTTGTTTGTCTACAATGGCCCTCATATGCTGGAACCA c.3240
P Y S E K M T V L F V Y N G P H M L E P p.1080
. . . . . . g.98364
AACACATGGAATTTAAAGGCTTTCCAAAGGCGGCGGCGCCGTATTACATTCACTCAACCT c.3300
N T W N L K A F Q R R R R R I T F T Q P p.1100
g.98370
TCTTAA c.3306
S X p.1101
. . . . . . g.98430
taaaagtaaagagagggaacttgggaattttttttgttaaattctgtttataagtatggc c.*60
. . . . . . g.98490
tcaactgaataaaaggagattcactaaaacgaaaagcagttatttttggaaacctgcttt c.*120
. . . . . . g.98550
taaatacaaataggttgataatggaaactataatgacctttccaaaatagcagctggtag c.*180
. . . . . . g.98610
taaaagttaagtcttcttcagtcttggttgaacttgagttcttggcactctgaccatgag c.*240
. . . . . . g.98670
tcattcagttctcatgttaaaatgtacttaatattacaaatcaaaggtacagtggaagaa c.*300
. . . . . . g.98730
gggttaatcacaagaagttacttatatggtagccctgagctttaattgcagagtaacttt c.*360
. . . . . . g.98790
aattacttttagagcctaaagatgactctagagcctaagtcctagtttctcccaatgtta c.*420
. . . . . . g.98850
tatttaattttaaaaaattgatatgaaaatgtctaatgtatagtaataatttatgacaga c.*480
. . . . . . g.98910
tctagtcatttcttcctattaaaaaagattaccttatctccagtaggaaatggaatttta c.*540
. . . . . . g.98970
tgggcctttaaaagaaagttttatgaaacttgatgctataattttattggtatttcaagg c.*600
. . . . . . g.99030
ggaaaaaagcactggggttcaaaaatggtagcagaactgctttgaaatgctgcaaggtgg c.*660
. . . . . . g.99090
ccactagatgatgcaaaatacaaccaaaagattgactgagaataaaattaggtgacaagg c.*720
. . . . . . g.99150
gtttttaaagaataaccttttaaagtgtgggggcaggggttgcttttttttattttattt c.*780
. . . . . . g.99210
aaagtcaattatattttacatcttacatttctaaaagcattttataattatttttagtaa c.*840
. . . . . . g.99270
gatttttcttaaaatttcatatactggtttctacaatttatatttgaaatttctcagtgt c.*900
. . . . . . g.99330
tatgtaaagagtgatggaaaagcattgatttctttaaaaccgtaatgtttttagaactta c.*960
. . . . . . g.99390
agcctatagggcctttcttacaatgttgatgtacccattatcttagaaaatctagtttaa c.*1020
. . . . . . g.99450
actgttttctttcaccgcaaaagaattaaatgggaaaatcatttgtttatctctaagtta c.*1080
. . . . . . g.99510
tactaattagtagaaccaaacaaattatcttcttttaaaaaataaatcttataggaaaat c.*1140
. . . . . . g.99570
agacagtccaaagtcatgtctttgaacagtggattggatctgtgccagtaatgacaaaat c.*1200
. . . . . . g.99630
tatttttttgacttgcttgcctgaataaattgaagaattgctttcagtttgggttttgta c.*1260
. . . . . . g.99690
tattcttaagtagccattgaaatttatattcttaactaggtcaaaaaataatgagccata c.*1320
. . . . . . g.99750
agtttatgtcctctcacttagacattttctctttaaaaaggtattttcttctttataaac c.*1380
. . . . . . g.99810
attttaaaagagccttcccttcttaaactaactccagtgcatgaagtgtgaaaatatttt c.*1440
. . . . . . g.99870
aaaatgacatttttactaatatgagcaagtcatgtaaacattgaagaacttggtaacata c.*1500
. . . . . . g.99930
ttagtaaatggatattaccaaatgttttcatcgttaattactttgcgttccaccaaaata c.*1560
. . . . . . g.99990
tctttactaaaatgtgcttggtgtagtttgtttattgtctaaattagtaccagtcatctt c.*1620
. . . . . . g.100050
atttctgcaaaatgagtatcaatgtgaaaaagacacgtgaagattaagcatgtttgaaaa c.*1680
. . . . . . g.100110
taaaatggtcaattacatttcaatttacataggccaacaactgttccatactttgtttgt c.*1740
. . . . . . g.100170
aaacatttaatttctctactggacaaaattaatatttggctttacattgaattttgagct c.*1800
. . . . . . g.100230
gtgaagaataaattatgtatcattttagcatattaaacagtagtaagtctagcacatagt c.*1860
. . . . . . g.100290
ctcagccacttaaaacaaaagtttttttgtttgtttgtttgtttgtttttttgagatgga c.*1920
. . . . . . g.100350
gtctcactctgttgcccaggctggagtgcagtggcgtgatctcggcttactgcaacctcc c.*1980
. . . . . . g.100410
gcctcccgggttcaagcgattctcctgcctcagcctcccaagtaactgggacaacaggcg c.*2040
. . . . . . g.100470
cgtcccaccacacccagctaattttttatacttttagtagagatggggtttcagcatatt c.*2100
. . . . . . g.100530
ggccaggctggtctcgaactcctgaccttgtgatccacccgcctcggcctcccaaagtgc c.*2160
. . . . . . g.100590
tgggattataggcgtgagcccctgcacccggccaaaagttgatttttaattacataaaaa c.*2220
. . . . . . g.100650
tcgtaaaaacttctagtaaaaacttgatttggtgaatacagttatatttaaaaaccttaa c.*2280
. . . . . . g.100710
ggtgacaagcattttctatgcctaaatcttcattggtttgcctggaaagagtctctgtta c.*2340
. . . . . . g.100770
aaagattttccatattcaaagtaaaaggaaagatttcttgctttctaattgtcttttgga c.*2400
. . . . . . g.100830
cacatgcctattttctttgaggtataaacctttagatgtgaaaaatgtaatttcattctg c.*2460
. . . . . . g.100890
ctattgtgtgtgcttgtgtgtgtgtaattgaaaaaactgggaaatcctgctttgttggta c.*2520
. . g.100912
ataaatcaatatttttatattc c.*2542
(downstream sequence)
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