(used for variant description)
(last modified August 1, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_002968.2 in the SALL1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007990.1, covering SALL1 transcript NM_002968.2.
(upstream sequence)
. . . g.5031
ttattctgccccagctgatgtttgagccagc c.-1
. . . . . . g.5091
ATGTCGCGGAGGAAGCAAGCGAAGCCTCAACATTTCCAATCCGACCCCGAAGTGGCCTCG c.60
M S R R K Q A K P Q H F Q S D P E V A S p.20
. | 02 . . . . . g.14171
CTCCCCCGGCGAGATG | GAGACACAGAAAAGGGTCAACCGAGTCGCCCTACTAAGAGCAAG c.120
L P R R D G | D T E K G Q P S R P T K S K p.40
. . . . . . g.14231
GATGCCCACGTCTGTGGCCGGTGCTGTGCCGAGTTCTTTGAATTATCAGATCTTCTGCTC c.180
D A H V C G R C C A E F F E L S D L L L p.60
. . . . . . g.14291
CACAAGAAGAACTGTACTAAAAATCAATTAGTTTTAATCGTAAATGAAAATCCAGCCTCC c.240
H K K N C T K N Q L V L I V N E N P A S p.80
. . . . . . g.14351
CCACCCGAAACCTTCTCCCCCAGCCCCCCTCCTGATAATCCTGATGAACAAATGAATGAC c.300
P P E T F S P S P P P D N P D E Q M N D p.100
. . . . . . g.14411
ACAGTTAACAAAACAGATCAAGTGGACTGCAGCGACCTTTCAGAACACAACGGACTTGAC c.360
T V N K T D Q V D C S D L S E H N G L D p.120
. . . . . . g.14471
AGGGAAGAGTCCATGGAGGTGGAGGCCCCGGTTGCTAACAAAAGCGGCAGCGGCACTTCC c.420
R E E S M E V E A P V A N K S G S G T S p.140
. . . . . . g.14531
AGCGGCAGCCACAGCAGTACCGCCCCAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCGGC c.480
S G S H S S T A P S S S S S S S S S S G p.160
. . . . . . g.14591
GGCGGCGGCAGCTCCTCCACAGGTACCTCAGCGATCACAACCTCTCTACCTCAACTCGGG c.540
G G G S S S T G T S A I T T S L P Q L G p.180
. . . . . . g.14651
GACCTGACAACACTGGGCAACTTCTCCGTAATCAACAGCAACGTCATCATCGAGAACCTC c.600
D L T T L G N F S V I N S N V I I E N L p.200
. . . . . . g.14711
CAGAGCACCAAGGTGGCGGTGGCCCAGTTCTCCCAGGAAGCGAGGTGCGGCGGGGCCTCT c.660
Q S T K V A V A Q F S Q E A R C G G A S p.220
. . . . . . g.14771
GGGGGCAAGCTGGCCGTCCCAGCCCTCATGGAACAACTCCTAGCTCTGCAGCAGCAGCAG c.720
G G K L A V P A L M E Q L L A L Q Q Q Q p.240
. . . . . . g.14831
ATCCACCAGCTGCAATTGATCGAACAGATTCGTCACCAAATATTGCTGTTGGCTTCTCAG c.780
I H Q L Q L I E Q I R H Q I L L L A S Q p.260
. . . . . . g.14891
AATGCAGACTTGCCAACATCTTCTAGTCCTTCTCAAGGTACTTTACGAACATCTGCCAAC c.840
N A D L P T S S S P S Q G T L R T S A N p.280
. . . . . . g.14951
CCCTTGTCCACGCTAAGTTCCCATTTATCTCAGCAGCTGGCAGCAGCAGCTGGATTGGCA c.900
P L S T L S S H L S Q Q L A A A A G L A p.300
. . . . . . g.15011
CAGAGCCTCGCCAGCCAATCTGCCAGCATTAGTGGTGTGAAACAGCTACCCCCAATCCAG c.960
Q S L A S Q S A S I S G V K Q L P P I Q p.320
. . . . . . g.15071
CTACCTCAGAGCAGTTCTGGCAACACCATCATTCCATCCAACAGCGGCTCTTCTCCCAAT c.1020
L P Q S S S G N T I I P S N S G S S P N p.340
. . . . . . g.15131
ATGAACATATTGGCAGCGGCAGTTACCACCCCGTCCTCTGAAAAAGTGGCTTCAAGTGCT c.1080
M N I L A A A V T T P S S E K V A S S A p.360
. . . . . . g.15191
GGGGCCTCCCATGTCAGCAACCCAGCGGTCTCATCATCGTCCTCACCAGCTTTTGCAATA c.1140
G A S H V S N P A V S S S S S P A F A I p.380
. . . . . . g.15251
AGCAGTTTATTAAGTCCTGCGTCTAATCCACTTCTACCTCAGCAAGCCTCCGCTAACTCG c.1200
S S L L S P A S N P L L P Q Q A S A N S p.400
. . . . . . g.15311
GTTTTCCCCAGCCCTTTGCCCAACATCGGAACAACTGCAGAGGATTTAAACTCCTTGTCT c.1260
V F P S P L P N I G T T A E D L N S L S p.420
. . . . . . g.15371
GCCTTGGCCCAGCAAAGAAAAAGCAAGCCACCAAATGTCACTGCCTTTGAAGCGAAAAGT c.1320
A L A Q Q R K S K P P N V T A F E A K S p.440
. . . . . . g.15431
ACTTCCGATGAGGCATTCTTCAAACACAAGTGCAGGTTCTGCGCGAAGGTCTTTGGGAGT c.1380
T S D E A F F K H K C R F C A K V F G S p.460
. . . . . . g.15491
GACAGTGCCTTGCAGATCCACTTGCGTTCCCATACCGGAGAGAGGCCATTCAAGTGCAAC c.1440
D S A L Q I H L R S H T G E R P F K C N p.480
. . . . . . g.15551
ATCTGCGGGAACAGGTTCTCCACCAAGGGGAATCTGAAAGTCCACTTTCAGCGCCACAAA c.1500
I C G N R F S T K G N L K V H F Q R H K p.500
. . . . . . g.15611
GAGAAATACCCTCATATCCAGATGAACCCCTATCCTGTGCCTGAGCATTTGGACAATATC c.1560
E K Y P H I Q M N P Y P V P E H L D N I p.520
. . . . . . g.15671
CCCACGAGTACTGGCATCCCATATGGCATGTCCATCCCTCCAGAGAAGCCAGTCACCAGC c.1620
P T S T G I P Y G M S I P P E K P V T S p.540
. . . . . . g.15731
TGGCTAGACACCAAACCAGTCCTGCCTACTCTGACCACTTCAGTCGGCCTGCCGTTGCCC c.1680
W L D T K P V L P T L T T S V G L P L P p.560
. . . . . . g.15791
CCAACCCTCCCAAGCCTCATACCCTTCATCAAGACGGAAGAGCCAGCCCCCATCCCCATC c.1740
P T L P S L I P F I K T E E P A P I P I p.580
. . . . . . g.15851
AGCCATTCTGCCACCAGCCCCCCAGGCTCAGTCAAAAGTGACTCCGGGGGCCCTGAGTCA c.1800
S H S A T S P P G S V K S D S G G P E S p.600
. . . . . . g.15911
GCCACAAGAAACCTAGGTGGGCTCCCAGAGGAAGCCGAAGGGTCCACTCTGCCACCCTCT c.1860
A T R N L G G L P E E A E G S T L P P S p.620
. . . . . . g.15971
GGTGGCAAAAGCGAAGAGAGTGGCATGGTCACCAACTCAGTCCCGACGGCGAGCAGTAGC c.1920
G G K S E E S G M V T N S V P T A S S S p.640
. . . . . . g.16031
GTCCTGAGCTCCCCAGCGGCAGACTGCGGCCCCGCGGGCAGTGCCACCACCTTCACCAAC c.1980
V L S S P A A D C G P A G S A T T F T N p.660
. . . . . . g.16091
CCTTTGTTGCCGCTCATGTCCGAGCAGTTCAAGGCCAAGTTTCCTTTTGGGGGACTCCTG c.2040
P L L P L M S E Q F K A K F P F G G L L p.680
. . . . . . g.16151
GACTCAGCTCAGGCATCAGAGACGTCCAAGCTTCAGCAACTGGTAGAAAACATTGACAAG c.2100
D S A Q A S E T S K L Q Q L V E N I D K p.700
. . . . . . g.16211
AAGGCCACTGACCCCAATGAGTGCATCATCTGCCACCGGGTTCTCAGCTGCCAGAGCGCC c.2160
K A T D P N E C I I C H R V L S C Q S A p.720
. . . . . . g.16271
TTGAAAATGCACTACAGGACACACACTGGGGAGAGGCCCTTTAAGTGTAAGATCTGTGGC c.2220
L K M H Y R T H T G E R P F K C K I C G p.740
. . . . . . g.16331
CGGGCTTTCACCACGAAAGGGAATCTTAAAACCCACTACAGTGTCCATCGTGCTATGCCC c.2280
R A F T T K G N L K T H Y S V H R A M P p.760
. . . . . . g.16391
CCGCTCAGAGTCCAGCATTCCTGCCCCATCTGCCAGAAGAAGTTCACGAACGCTGTGGTC c.2340
P L R V Q H S C P I C Q K K F T N A V V p.780
. . . . . . g.16451
CTGCAGCAGCACATCCGAATGCATATGGGAGGCCAGATCCCCAACACCCCAGTCCCCGAC c.2400
L Q Q H I R M H M G G Q I P N T P V P D p.800
. . . . . . g.16511
AGCTACTCTGAGTCCATGGAGTCTGACACAGGTTCCTTTGATGAGAAAAATTTTGATGAC c.2460
S Y S E S M E S D T G S F D E K N F D D p.820
. . . . . . g.16571
CTAGACAACTTCTCTGATGAAAACATGGAAGACTGTCCTGAGGGCAGCATCCCTGATACA c.2520
L D N F S D E N M E D C P E G S I P D T p.840
. . . . . . g.16631
CCTAAGTCTGCAGACGCCTCCCAAGACAGCTTATCCTCTTCGCCTTTGCCCCTCGAGATG c.2580
P K S A D A S Q D S L S S S P L P L E M p.860
. . . . . . g.16691
TCGAGCATCGCTGCTTTGGAAAATCAGATGAAGATGATCAATGCTGGCCTGGCAGAGCAG c.2640
S S I A A L E N Q M K M I N A G L A E Q p.880
. . . . . . g.16751
CTACAGGCCAGCCTGAAGTCAGTGGAGAATGGGTCCATCGAGGGGGATGTCCTGACCAAT c.2700
L Q A S L K S V E N G S I E G D V L T N p.900
. . . . . . g.16811
GATTCATCCTCAGTGGGTGGTGACATGGAAAGCCAAAGTGCTGGCAGCCCAGCCATCTCA c.2760
D S S S V G G D M E S Q S A G S P A I S p.920
. . . . . . g.16871
GAGTCTACCTCTTCCATGCAGGCTCTGTCCCCGTCCAACAGCACGCAGGAGTTCCACAAG c.2820
E S T S S M Q A L S P S N S T Q E F H K p.940
. . . . . . g.16931
TCACCCAGCATTGAGGAGAAACCACAGAGAGCGGTCCCAAGCGAGTTTGCCAATGGTTTG c.2880
S P S I E E K P Q R A V P S E F A N G L p.960
. . . . . . g.16991
TCTCCCACCCCAGTGAATGGTGGGGCTTTGGATTTGACATCTAGTCACGCAGAGAAAATC c.2940
S P T P V N G G A L D L T S S H A E K I p.980
. . . . . . g.17051
ATCAAAGAAGATTCTTTGGGGATCCTCTTCCCTTTTAGAGACCGGGGTAAATTTAAAAAC c.3000
I K E D S L G I L F P F R D R G K F K N p.1000
. . . . . . g.17111
ACTGCTTGTGACATTTGTGGCAAAACATTTGCTTGTCAGAGTGCCTTGGACATTCACTAT c.3060
T A C D I C G K T F A C Q S A L D I H Y p.1020
. . . . . . g.17171
AGAAGTCATACCAAAGAGAGACCATTTATTTGCACAGTTTGCAATCGTGGCTTTTCCACA c.3120
R S H T K E R P F I C T V C N R G F S T p.1040
. . . . . . g.17231
AAGGGTAATTTGAAGCAGCACATGTTGACACATCAGATGCGAGATCTGCCATCCCAGCTC c.3180
K G N L K Q H M L T H Q M R D L P S Q L p.1060
. . . . . . g.17291
TTTGAGCCCAGTTCCAACCTTGGCCCCAATCAGAACTCAGCGGTGATTCCCGCCAACTCG c.3240
F E P S S N L G P N Q N S A V I P A N S p.1080
. . . . . . g.17351
TTGTCATCTCTCATCAAGACAGAGGTCAACGGCTTCGTGCATGTTTCTCCTCAGGACAGT c.3300
L S S L I K T E V N G F V H V S P Q D S p.1100
. . . . . . g.17411
AAGGACACCCCCACCAGTCACGTCCCGTCTGGGCCTCTGTCTTCCTCTGCCACATCCCCA c.3360
K D T P T S H V P S G P L S S S A T S P p.1120
. . . . . . g.17471
GTTCTGCTCCCTGCTCTGCCCAGGAGAACTCCCAAGCAGCACTACTGCAACACATGTGGC c.3420
V L L P A L P R R T P K Q H Y C N T C G p.1140
. . . . . . g.17531
AAAACCTTCTCCTCATCGAGTGCCCTGCAGATTCACGAGAGAACTCACACTGGAGAGAAA c.3480
K T F S S S S A L Q I H E R T H T G E K p.1160
. . . . . | 03 . g.18726
CCCTTTGCTTGCACTATTTGTGGAAGAGCTTTCACGACTAAAGGCAATCTTAAG | GTACAC c.3540
P F A C T I C G R A F T T K G N L K | V H p.1180
. . . . . . g.18786
ATGGGCACTCACATGTGGAATAGCACCCCTGCACGACGGGGTCGGCGGCTCTCTGTGGAT c.3600
M G T H M W N S T P A R R G R R L S V D p.1200
. . . . . . g.18846
GGCCCCATGACATTTCTAGGAGGCAATCCCGTCAAGTTCCCAGAAATGTTCCAGAAGGAT c.3660
G P M T F L G G N P V K F P E M F Q K D p.1220
. . . . . . g.18906
TTGGCGGCAAGATCAGGAAGTGGGGATCCTTCCAGCTTCTGGAATCAGTATGCAGCAGCG c.3720
L A A R S G S G D P S S F W N Q Y A A A p.1240
. . . . . . g.18966
CTCTCCAACGGGCTGGCGATGAAGGCCAACGAGATCTCCGTCATTCAGAACGGTGGCATC c.3780
L S N G L A M K A N E I S V I Q N G G I p.1260
. . . . . . g.19026
CCTCCAATTCCTGGAAGCCTCGGCAGTGGGAACAGCTCACCTGTTAGTGGGCTGACGGGA c.3840
P P I P G S L G S G N S S P V S G L T G p.1280
. . . . . . g.19086
AACCTGGAGAGGCTCCAGAACTCAGAGCCCAATGCTCCCCTGGCCGGCCTGGAGAAAATG c.3900
N L E R L Q N S E P N A P L A G L E K M p.1300
. . . . . . g.19146
GCAAGCAGTGAGAACGGAACCAACTTCCGCTTCACCCGCTTCGTGGAGGACAGCAAGGAG c.3960
A S S E N G T N F R F T R F V E D S K E p.1320
. g.19161
ATCGTCACGAGTTAA c.3975
I V T S X p.1324
. . . . . . g.19221
agcagctcgggctggagacatagcattcattcctgttcagaatgcgacctatggtggcct c.*60
. . . . . . g.19281
cctactccttgccccccaccccgccccgccccttccttctgttccccagatctatgaact c.*120
. . . . . . g.19341
acaacattatgaagacattcttttgtaccttgttcaactttagagttctaagaaagctta c.*180
. . . . . . g.19401
tttattagcgatataaccttgctttgcaaacagaatgcaagcgttaactttggtcttctg c.*240
. . . . . . g.19461
tattttggactaaatactaattgactagagtgctgtaaacttgctgtaacatttatggca c.*300
. . . . . . g.19521
attgcaagttgccctgctaggcagttgtaatctggcattaacttattttctatatccagt c.*360
. . . . . . g.19581
ttaatatgaatctggtgttgatgcaatgcctcagtgatgcattagatctctaataaagtc c.*420
. . . . . . g.19641
tgtatatacatgtacactttgatcctgctggaaaattttatcagcaaacacattgtctaa c.*480
. . . . . . g.19701
tctttcaaaacagatttaaggaaaggactgaaagtacagactgaacagtgtggttctttg c.*540
. . . . . . g.19761
aaaggtttggttttttaatttttattctaaaattcaacctttttttttgtcgatttaacc c.*600
. . . . . . g.19821
atttccattttgaactgctatttgtattgtgctttttacttgagtcgtcttcaatgttaa c.*660
. . . . . . g.19881
taagtttctgtacagtaataagcacgcagaattctttagagaaaaagaaaacaagcgttg c.*720
. . . . . . g.19941
ttttggtagttgaaactgagacgtaacattttgccttgtaggtatattcacgatagaaaa c.*780
. . . . . . g.20001
tgtgtgctggaatttcacaatgctgctaagtatagcatcttgaacaaccttcagtggaga c.*840
. . . . . . g.20061
aaatgtagatgctcttgtatatacaataagaaatatcactttcattcaaatgtacatatg c.*900
. . . . . . g.20121
ttccttacaagagcaaatgcttcttcttgatcaagagagcaggtatagtgtttgtttatt c.*960
. . . . . . g.20181
ttgtcttaggtatggaagaaaaaaattggactgttacatgcactttcttggaaagttgaa c.*1020
. . . . . . g.20241
aggaaagggggggtccaatttctttaacatttaatacttactaacaacagagatactgta c.*1080
. . . . . g.20298
attttactcaagtaatcaaatacattttttttgcaacagataaaacaaaatactgtg c.*1137
(downstream sequence)
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