(used for variant description)
(last modified October 12, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_003036.3 in the SKI gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013084.1, covering SKI transcript NM_003036.3.
(upstream sequence)
. g.5012
cggggcggcggc c.-61
. . . . . . g.5072
gggggccgggggggcccgggcgcgcgggagcgggagcggccgggggagccggagcgcacc c.-1
. . . . . . g.5132
ATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACG c.60
M E A A A G G R G C F Q P H P G L Q K T p.20
. . . . . . g.5192
CTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCGGCCCGGCCGCTTTCTCGGCG c.120
L E Q F H L S S M S S L G G P A A F S A p.40
. . . . . . g.5252
CGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTG c.180
R W A Q E A Y K K E S A K E A G A A A V p.60
. . . . . . g.5312
CCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAG c.240
P A P V P A A T E P P P V L H L P A I Q p.80
. . . . . . g.5372
CCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGC c.300
P P P P V L P G P F F M P S D R S T E R p.100
. . . . . . g.5432
TGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGC c.360
C E T V L E G E T I S C F V V G G E K R p.120
. . . . . . g.5492
CTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAAC c.420
L C L P Q I L N S V L R D F S L Q Q I N p.140
. . . . . . g.5552
GCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATC c.480
A V C D E L H I Y C S R C T A D Q L E I p.160
. . . . . . g.5612
CTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACG c.540
L K V M G I L P F S A P S C G L I T K T p.180
. . . . . . g.5672
GACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAG c.600
D A E R L C N A L L Y G G A Y P P P C K p.200
. . . . . . g.5732
AAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTG c.660
K E L A A S L A L G L E L S E R S V R V p.220
. . . . . . g.5792
TACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCG c.720
Y H E C F G K C K G L L V P E L Y S S P p.240
. . . . . . g.5852
AGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTG c.780
S A A C I Q C L D C R L M Y P P H K F V p.260
. . . . . . g.5912
GTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAAC c.840
V H S H K A L E N R T C H W G F D S A N p.280
. . . . . . g.5972
TGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTC c.900
W R A Y I L L S Q D Y T G K E E Q A R L p.300
. . . . . . g.6032
GGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGG c.960
G R C L D D V K E K F D Y G N K Y K R R p.320
| 02 . . . . . g.79334
GTGCCCCGG | GTCTCCTCTGAGCCTCCGGCCTCCATAAGACCCAAAACAGATGACACCTCT c.1020
V P R | V S S E P P A S I R P K T D D T S p.340
. . . . . . g.79394
TCCCAGTCCCCCGCGCCTTCCGAAAAGGACAAGCCGTCCAGCTGGCTGCGGACCTTGGCC c.1080
S Q S P A P S E K D K P S S W L R T L A p.360
. | 03 . . . . . g.79635
GGCTCTTCCAATAAG | AGCCTGGGCTGTGTTCACCCTCGCCAGCGCCTCTCTGCTTTCCGA c.1140
G S S N K | S L G C V H P R Q R L S A F R p.380
. . . . . . g.79695
CCCTGGTCCCCCGCAGTGTCAGCGAGTGAGAAAGAGCTCTCCCCACACCTCCCGGCCCTC c.1200
P W S P A V S A S E K E L S P H L P A L p.400
. | 04 . . . . . g.80194
ATCCGAGACAG | CTTCTACTCCTACAAGAGCTTTGAGACAGCCGTGGCGCCCAACGTGGCC c.1260
I R D S | F Y S Y K S F E T A V A P N V A p.420
. . . . . . g.80254
CTCGCACCGCCGGCCCAGCAGAAGGTTGTGAGCAGCCCTCCGTGTGCCGCCGCCGTCTCC c.1320
L A P P A Q Q K V V S S P P C A A A V S p.440
. . . . . . g.80314
CGGGCCCCCGAGCCTCTCGCCACTTGCACCCAGCCTCGGAAGCGGAAGCTGACTGTGGAC c.1380
R A P E P L A T C T Q P R K R K L T V D p.460
. . . . . . g.80374
ACCCCAGGAGCCCCAGAGACGCTGGCGCCCGTGGCTGCCCCAGAGGAGGACAAGGACTCG c.1440
T P G A P E T L A P V A A P E E D K D S p.480
. . . | 05 . . . g.80624
GAGGCGGAGGTGGAAGTTGAAAGCAGGGAGGAAT | TCACCTCCTCCTTGTCCTCGCTCTCT c.1500
E A E V E V E S R E E F | T S S L S S L S p.500
. . . . . . g.80684
TCCCCGTCCTTTACCTCATCCAGCTCCGCCAAGGACCTGGGCTCCCCGGGTGCGCGTGCC c.1560
S P S F T S S S S A K D L G S P G A R A p.520
. . . . . . g.80744
CTGCCCTCGGCCGTCCCTGATGCTGCGGCCCCTGCCGACGCCCCCAGTGGGCTGGAGGCG c.1620
L P S A V P D A A A P A D A P S G L E A p.540
. . . . . . g.80804
GAGCTGGAGCACCTGCGGCAGGCACTGGAGGGCGGCCTGGACACCAAGGAAGCCAAAGAG c.1680
E L E H L R Q A L E G G L D T K E A K E p.560
. . . . . . g.80864
AAGTTCCTGCATGAGGTGGTCAAGATGCGCGTGAAGCAGGAGGAGAAGCTCAGCGCAGCC c.1740
K F L H E V V K M R V K Q E E K L S A A p.580
. . | 06. . . . g.82358
CTGCAGGCCAAGCGCAGCCTCCACCAG | GAGCTGGAGTTCCTACGCGTGGCCAAGAAGGAG c.1800
L Q A K R S L H Q | E L E F L R V A K K E p.600
. . . . . . g.82418
AAGCTGCGGGAGGCCACGGAGGCCAAGCGTAACCTGCGGAAGGAGATCGAGCGTCTCCGC c.1860
K L R E A T E A K R N L R K E I E R L R p.620
. . . . . . g.82478
GCCGAGAACGAGAAGAAGATGAAAGAGGCCAACGAGTCACGGCTGCGCCTGAAGCGGGAG c.1920
A E N E K K M K E A N E S R L R L K R E p.640
. . . . . . g.82538
CTGGAGCAGGCGCGGCAGGCCCGGGTGTGCGACAAGGGCTGCGAGGCGGGCCGCCTGCGC c.1980
L E Q A R Q A R V C D K G C E A G R L R p.660
. | 07 . . . . g.82924
GCCAAGTACTCGGCCCAG | ATCGAAGACCTGCAGGTGAAGCTGCAGCACGCGGAGGCGGAC c.2040
A K Y S A Q | I E D L Q V K L Q H A E A D p.680
. . . . . . g.82984
CGGGAGCAGCTGCGGGCCGACCTGCTGCGGGAGCGCGAGGCCCGGGAGCACCTGGAGAAG c.2100
R E Q L R A D L L R E R E A R E H L E K p.700
. . . . . . g.83044
GTGGTGAAGGAGCTGCAGGAACAGCTGTGGCCGCGGGCCCGCCCCGAGGCTGCGGGCAGC c.2160
V V K E L Q E Q L W P R A R P E A A G S p.720
. . g.83071
GAGGGCGCTGCGGAGCTGGAGCCGTAG c.2187
E G A A E L E P X p.728
. . . . . . g.83131
attccgtgcctgccgccgcagcgccgccgacaacgcgggtgcaggggggcgcggctgggc c.*60
. . . . . . g.83191
ggtgcagctccgcccggctccgcccctgcagcccacacagcacaacgtcttaccgtgcct c.*120
. . . . . . g.83251
attaccaagcgagtgtttgtaaccatgtagttttggaacccactgcaaaattttctactg c.*180
. . . . . . g.83311
gccaagttcaagtgagtaagccgcgtcccccaactacagctggagacggggccagctcgg c.*240
. . . . . . g.83371
cggcctgctggtcctctgcttgctggaacattctaacatttacacttttgttataagcta c.*300
. . . . . . g.83431
tttaaaaccagtaaggagacttgaaattcagaaaatcaacacatttttaaatgactaact c.*360
. . . . . . g.83491
tctaaaagccccaacacatgacgccatctgaagacccgcaacggagtgggggtggcggcc c.*420
. . . . . . g.83551
gccccaccctccccacccggggaagccatcacagctcatctgcccgcggctgcgtgagga c.*480
. . . . . . g.83611
cagcaggggtttttcttcagagtctattttttcagcgacaaggacccaggtcttcctgct c.*540
. . . . . . g.83671
gctgccagggagagcagggacagtgccgcgtgcgagatgagctcgaacactgcccgcctt c.*600
. . . . . . g.83731
actgccgcctaccccgcccgccacgccgccgtcgatgccagcgctgtccccacgggtacc c.*660
. . . . . . g.83791
aggaagtgcagagccgcacaggagctgccccggagctgaggggacggtcttcggctcctc c.*720
. . . . . . g.83851
tgcaccccgtgattctgcccacgctcctccaccacgaggcactgacctgcgtcgggtggt c.*780
. . . . . . g.83911
gaccgtggctggcggtcacgccctcagcccctccgggcacacgtgccgcctgaccgggcg c.*840
. . . . . . g.83971
acccttttcagttcggcaaacgtcgctcccttcattttgggactgaggctgcagcattgg c.*900
. . . . . . g.84031
aacaaaagagcattatttcaatttttctttctttttttttgttcgttcatttaaacgtat c.*960
. . . . . . g.84091
atttagaactgcactttgtccacaaccttcccttctctttctattccccagtgaactgag c.*1020
. . . . . . g.84151
gtttttaccgatttatagagcagtcaaatccgaagtgctcgagtgcttagaaaccccctc c.*1080
. . . . . . g.84211
tggtgcttggttgaacaagggaatcacaagaaaacgaaaatgcaaaaactgaacttcggg c.*1140
. . . . . . g.84271
ggtcgttctgtgccttccagcatcttgtacagcaaatcctgactcgtgtctttttacccc c.*1200
. . . . . . g.84331
caagatatctgtcttcagtagcgactgaatctgccactctcagaataagttccttgcatt c.*1260
. . . . . . g.84391
tattccaaataatctcgtttactctcacctgtttatgcaaattgtataaggtttcttatg c.*1320
. . . . . . g.84451
cccaagcttgaaaaatgatttcccagtagacaagaggcggctacctatcctacagttacg c.*1380
. . . . . . g.84511
gtatttatttacataagaagatcttacaggagttctttgcttgaatccgttctaacaccc c.*1440
. . . . . . g.84571
gcggcagctgcacgcgctcacagaaggtggaggttacttgcccaggtacagacgacctcg c.*1500
. . . . . . g.84631
gggcagtgacgagcaaagaccagagactgctgagccctcgcatctgggtggcggaattgc c.*1560
. . . . . . g.84691
ctgcggggttttgcccttggtttactgaggggggtcttggttgctgctgaagccccccac c.*1620
. . . . . . g.84751
cccttctaaagtgcaatgcaaaagggacatcatgtatatgcagcgtttgtttggaatttt c.*1680
. . . . . . g.84811
ctttgcttttgttttctttgcggttgttctgtgtgcatggattccacacctctgccgtag c.*1740
. . . . . . g.84871
gtagatccgtcagcgggcattattaccgtgtcttgtaaagggtcggttttgttatgcaac c.*1800
. . . . . . g.84931
atgcagaatgctgtttttagccttgttttaccagagttgttttttttttcagttatttct c.*1860
. . . . . . g.84991
tcaagggaaactaaatgatttagttggagcaaagctttaagtgtgttggcgtgcttctgt c.*1920
. . . . . . g.85051
gtggctgtcctgtgtcgccaggtcgaagatcacagtgaggtagaggccctgccccatccc c.*1980
. . . . . . g.85111
cagggccgccaggcttgctccgtttgctttgagtttttagaccccagagggagatgagct c.*2040
. . . . . . g.85171
tttccaagctgtgtctgggccagagcctctccttgcccttgctccatcccgacggtcacc c.*2100
. . . . . . g.85231
gttgggtccacgcctccaccgccccatcttgccccaaacggaaagcgctgtatctgcagt c.*2160
. . . . . . g.85291
ggcagcccttccccacttcggctctgggagggtccagccagtgtcacctgggcccaccct c.*2220
. . . . . . g.85351
ttcctgcagctgccaggcccgtgcggtcagtgggacccggacgtgggcaggcgagctcgg c.*2280
. . . . . . g.85411
gaccctcccaggcagttcccacagctcttgcctcggctcaccagggtcacttccactgtc c.*2340
. . . . . . g.85471
aggggcctgagggggcagctgtggctgcagggctgctctggactgaggggtcccaggccc c.*2400
. . . . . . g.85531
cgaggggtgcacgcctggctccccttggcacaggtgcgagtccgtttcttttcagcagaa c.*2460
. . . . . . g.85591
gggggaagaggtgtccgctgtgtgggctgctgactcctctgtgtgtgaggcccttcatct c.*2520
. . . . . . g.85651
aagtgattgtgtattcagtttaattctcattatatttctatactgaaagaagatttttaa c.*2580
. . . . . . g.85711
cgaagggaaaaacaacagcaataacattcatatctctggagcagctaactcatacacgta c.*2640
. . . . . . g.85771
atgtctgcttttcgtacagaactagccaatgtaaaaacagttcacctgtaaatacttttt c.*2700
. . . . . . g.85831
cctttttcaccgttgtattatacatgtatatgctgggtcctttttcagaaactcttttct c.*2760
. . . . . . g.85891
tacctgagagttgtcttgttttctgggctgtttttaactgaggaaaaaaaaaatgctttc c.*2820
. . . . . . g.85951
ctgccggggggcaggggagacggagaaacccatgtgcgtttcccatgtgaccccctcctc c.*2880
. . . . . . g.86011
cctgtgggtctgagccccggccccccccacctcctcctccctgtgggtccgaaccccggc c.*2940
. . . . . . g.86071
ccccccaccccctcctccctgtgggtccgaaccccggcccccccaccccctcctccctgt c.*3000
. . . . . . g.86131
gggtccgatccccggccccccccaccccctcctccctgtgggtccgaaccccggcccccc c.*3060
. . . . . . g.86191
ccccaccccctcctccctgtgggtccgaaccccggcccccccacccctccctcagcccac c.*3120
. . . . . . g.86251
cagggtccagggagatgttcgttctcgctttaagtcaggagtcacaaatgactttttttt c.*3180
. . . . . . g.86311
ttcaattaaggaaaaagctccatctctacctttaacatcacccagacccccgcccctgcc c.*3240
. . . . . . g.86371
cgtgccccacgctgctgctaacgacagtatgatgcttactctgctactcggaaactattt c.*3300
. . . . . . g.86431
ttatgtaattaatgtatgctttcttgtttataaatgcctgatttaaaaagaaaagagctt c.*3360
. . . . . . g.86491
ggcatatttatctatttcgctgtgtacctgttagtccttccccgaccccgaaacagatga c.*3420
. . g.86519
cattgtacaataaaggactttgagagga c.*3448
(downstream sequence)
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