(used for variant description)
(last modified April 7, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_020436.3 in the SALL4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000020.10, covering SALL4 transcript NM_020436.3.
(upstream sequence)
. . . . g.5041
atgcgcgttccggccgaaggggggtaaatttcccaactcca c.-61
. . . . . . g.5101
ggaatttgtggcggagagggcaaataactgcggctctcccggcgccccgatgctcgcacc c.-1
. . . . . . g.5161
ATGTCGAGGCGCAAGCAGGCGAAACCCCAGCACATCAACTCGGAGGAGGACCAGGGCGAG c.60
M S R R K Q A K P Q H I N S E E D Q G E p.20
. . . . . . g.5221
CAGCAGCCGCAGCAGCAGACCCCGGAGTTTGCAGATGCGGCCCCAGCGGCGCCCGCGGCG c.120
Q Q P Q Q Q T P E F A D A A P A A P A A p.40
. | 02 . . . . . g.15207
GGGGAGCTGG | GTGCTCCAGTGAACCACCCAGGGAATGACGAGGTGGCGAGTGAGGATGAA c.180
G E L G | A P V N H P G N D E V A S E D E p.60
. . . . . . g.15267
GCCACAGTAAAGCGGCTTCGTCGGGAGGAGACGCACGTCTGTGAGAAATGCTGTGCGGAG c.240
A T V K R L R R E E T H V C E K C C A E p.80
. . . . . . g.15327
TTCTTCAGCATCTCTGAGTTCCTGGAACATAAGAAAAATTGCACTAAAAATCCACCTGTC c.300
F F S I S E F L E H K K N C T K N P P V p.100
. . . . . . g.15387
CTCATCATGAATGACAGCGAGGGGCCTGTGCCTTCAGAAGACTTCTCCGGAGCTGTACTG c.360
L I M N D S E G P V P S E D F S G A V L p.120
. . . . . . g.15447
AGCCACCAGCCCACCAGTCCCGGCAGTAAGGACTGTCACAGGGAGAATGGCGGCAGCTCA c.420
S H Q P T S P G S K D C H R E N G G S S p.140
. . . . . . g.15507
GAGGACATGAAGGAGAAGCCGGATGCGGAGTCTGTGGTGTACCTAAAGACAGAGACAGCC c.480
E D M K E K P D A E S V V Y L K T E T A p.160
. . . . . . g.15567
CTGCCACCCACCCCCCAGGACATAAGCTATTTAGCCAAAGGCAAAGTGGCCAACACTAAT c.540
L P P T P Q D I S Y L A K G K V A N T N p.180
. . . . . . g.15627
GTGACCTTGCAGGCACTACGGGGCACCAAGGTGGCGGTGAATCAGCGGAGCGCGGATGCA c.600
V T L Q A L R G T K V A V N Q R S A D A p.200
. . . . . . g.15687
CTCCCTGCCCCCGTGCCTGGTGCCAACAGCATCCCGTGGGTCCTCGAGCAGATCTTGTGT c.660
L P A P V P G A N S I P W V L E Q I L C p.220
. . . . . . g.15747
CTGCAGCAGCAGCAGCTACAGCAGATCCAGCTCACCGAGCAGATCCGCATCCAGGTGAAC c.720
L Q Q Q Q L Q Q I Q L T E Q I R I Q V N p.240
. . . . . . g.15807
ATGTGGGCCTCCCACGCCCTCCACTCAAGCGGGGCAGGGGCCGACACTCTGAAGACCTTG c.780
M W A S H A L H S S G A G A D T L K T L p.260
. . . . . . g.15867
GGCAGCCACATGTCTCAGCAGGTTTCTGCAGCTGTGGCTTTGCTCAGCCAGAAAGCTGGA c.840
G S H M S Q Q V S A A V A L L S Q K A G p.280
. . . . . . g.15927
AGCCAAGGTCTGTCTCTGGATGCCTTGAAACAAGCCAAGCTACCTCACGCCAACATCCCT c.900
S Q G L S L D A L K Q A K L P H A N I P p.300
. . . . . . g.15987
TCTGCCACCAGCTCCCTGTCCCCAGGGCTGGCACCCTTCACTCTGAAGCCGGATGGGACC c.960
S A T S S L S P G L A P F T L K P D G T p.320
. . . . . . g.16047
CGGGTGCTCCCGAACGTCATGTCCCGCCTCCCGAGCGCTTTGCTTCCTCAGGCCCCGGGC c.1020
R V L P N V M S R L P S A L L P Q A P G p.340
. . . . . . g.16107
TCGGTGCTCTTCCAGAGCCCTTTCTCCACTGTGGCGCTAGACACATCCAAGAAAGGGAAG c.1080
S V L F Q S P F S T V A L D T S K K G K p.360
. . . . . . g.16167
GGGAAGCCACCGAACATCTCCGCGGTGGATGTCAAACCCAAAGACGAGGCGGCCCTCTAC c.1140
G K P P N I S A V D V K P K D E A A L Y p.380
. . . . . . g.16227
AAGCACAAGTGTAAGTACTGTAGCAAGGTTTTTGGGACTGATAGCTCCTTGCAGATCCAC c.1200
K H K C K Y C S K V F G T D S S L Q I H p.400
. . . . . . g.16287
CTCCGCTCCCACACTGGAGAGAGACCCTTCGTGTGCTCTGTCTGTGGTCATCGCTTCACC c.1260
L R S H T G E R P F V C S V C G H R F T p.420
. . . . . . g.16347
ACCAAGGGCAACCTCAAGGTGCACTTTCACCGACATCCCCAGGTGAAGGCAAACCCCCAG c.1320
T K G N L K V H F H R H P Q V K A N P Q p.440
. . . . . . g.16407
CTGTTTGCCGAGTTCCAGGACAAAGTGGCGGCCGGCAATGGCATCCCCTATGCACTCTCT c.1380
L F A E F Q D K V A A G N G I P Y A L S p.460
. . . . . . g.16467
GTACCTGACCCCATAGATGAACCGAGTCTTTCTTTAGACAGCAAACCTGTCCTTGTAACC c.1440
V P D P I D E P S L S L D S K P V L V T p.480
. . . . . . g.16527
ACCTCTGTAGGGCTACCTCAGAATCTTTCTTCGGGGACTAATCCCAAGGACCTCACGGGT c.1500
T S V G L P Q N L S S G T N P K D L T G p.500
. . . . . . g.16587
GGCTCCTTGCCCGGTGACCTGCAGCCTGGGCCTTCTCCAGAAAGTGAGGGTGGACCCACA c.1560
G S L P G D L Q P G P S P E S E G G P T p.520
. . . . . . g.16647
CTCCCTGGGGTGGGACCAAACTATAATTCCCCAAGGGCTGGTGGCTTCCAAGGGAGTGGG c.1620
L P G V G P N Y N S P R A G G F Q G S G p.540
. . . . . . g.16707
ACCCCTGAGCCAGGGTCAGAGACCCTGAAATTGCAGCAGTTGGTGGAGAACATTGACAAG c.1680
T P E P G S E T L K L Q Q L V E N I D K p.560
. . . . . . g.16767
GCCACCACTGATCCCAACGAATGTCTCATTTGCCACCGAGTCTTAAGCTGTCAGAGCTCC c.1740
A T T D P N E C L I C H R V L S C Q S S p.580
. . . . . . g.16827
CTCAAGATGCATTATCGCACCCACACCGGGGAGAGACCGTTCCAGTGTAAGATCTGTGGC c.1800
L K M H Y R T H T G E R P F Q C K I C G p.600
. . . . . . g.16887
CGAGCCTTTTCTACCAAAGGTAACCTGAAGACACACCTTGGGGTTCACCGAACCAACACA c.1860
R A F S T K G N L K T H L G V H R T N T p.620
. . . . . . g.16947
TCCATTAAGACGCAGCATTCGTGCCCCATCTGCCAGAAGAAGTTCACTAATGCCGTGATG c.1920
S I K T Q H S C P I C Q K K F T N A V M p.640
. . . . . . g.17007
CTGCAGCAACATATTCGGATGCACATGGGCGGTCAGATTCCCAACACGCCCCTGCCAGAG c.1980
L Q Q H I R M H M G G Q I P N T P L P E p.660
. . . . . . g.17067
AATCCCTGTGACTTTACGGGTTCTGAGCCAATGACCGTGGGTGAGAACGGCAGCACCGGC c.2040
N P C D F T G S E P M T V G E N G S T G p.680
. . . . . . g.17127
GCTATCTGCCATGATGATGTCATCGAAAGCATCGATGTAGAGGAAGTCAGCTCCCAGGAG c.2100
A I C H D D V I E S I D V E E V S S Q E p.700
. . . . . . g.17187
GCTCCCAGCAGCTCCTCCAAGGTCCCCACGCCTCTTCCCAGCATCCACTCGGCATCACCC c.2160
A P S S S S K V P T P L P S I H S A S P p.720
. . . . . . g.17247
ACGCTAGGGTTTGCCATGATGGCTTCCTTAGATGCCCCAGGGAAAGTGGGTCCTGCCCCT c.2220
T L G F A M M A S L D A P G K V G P A P p.740
. . . . . . g.17307
TTTAACCTGCAGCGCCAGGGCAGCAGAGAAAACGGTTCCGTGGAGAGCGATGGCTTGACC c.2280
F N L Q R Q G S R E N G S V E S D G L T p.760
. . . . . . g.17367
AACGACTCATCCTCGCTGATGGGAGACCAGGAGTATCAGAGCCGAAGCCCAGATATCCTG c.2340
N D S S S L M G D Q E Y Q S R S P D I L p.780
. . . . . . g.17427
GAAACCACATCCTTCCAGGCACTCTCCCCGGCCAATAGTCAAGCCGAAAGCATCAAGTCA c.2400
E T T S F Q A L S P A N S Q A E S I K S p.800
. . . . . . g.17487
AAGTCTCCCGATGCTGGGAGCAAAGCAGAGAGCTCCGAGAACAGCCGCACTGAGATGGAA c.2460
K S P D A G S K A E S S E N S R T E M E p.820
| 03 . . . . . . g.18427
G | GTCGGAGCAGTCTCCCTTCCACGTTTATCCGAGCCCCGCCGACCTATGTCAAGGTTGAA c.2520
G | R S S L P S T F I R A P P T Y V K V E p.840
. . . . . . g.18487
GTTCCTGGCACATTTGTGGGACCCTCGACATTGTCCCCAGGGATGACCCCTTTGTTAGCA c.2580
V P G T F V G P S T L S P G M T P L L A p.860
. . . . . . g.18547
GCCCAGCCACGCCGACAGGCCAAGCAACATGGCTGCACACGGTGTGGGAAGAACTTCTCG c.2640
A Q P R R Q A K Q H G C T R C G K N F S p.880
. . . . . . g.18607
TCTGCTAGCGCTCTTCAGATCCACGAGCGGACTCACACTGGAGAGAAGCCTTTTGTGTGC c.2700
S A S A L Q I H E R T H T G E K P F V C p.900
. . . . | 04 . . g.22843
AACATTTGTGGGCGAGCTTTTACCACCAAAGGCAACTTAAAG | GTTCACTACATGACACAC c.2760
N I C G R A F T T K G N L K | V H Y M T H p.920
. . . . . . g.22903
GGGGCGAACAATAACTCAGCCCGCCGTGGAAGGAAGTTGGCCATCGAGAACACCATGGCT c.2820
G A N N N S A R R G R K L A I E N T M A p.940
. . . . . . g.22963
CTGTTAGGTACGGACGGAAAAAGAGTCTCAGAAATCTTTCCCAAGGAAATCCTGGCCCCT c.2880
L L G T D G K R V S E I F P K E I L A P p.960
. . . . . . g.23023
TCAGTGAATGTGGACCCTGTTGTGTGGAACCAGTACACCAGCATGCTCAATGGCGGTCTG c.2940
S V N V D P V V W N Q Y T S M L N G G L p.980
. . . . . . g.23083
GCCGTGAAGACCAATGAGATCTCTGTGATCCAGAGTGGGGGGGTTCCTACCCTCCCGGTT c.3000
A V K T N E I S V I Q S G G V P T L P V p.1000
. . . . . . g.23143
TCCTTGGGGGCCACCTCCGTTGTGAATAACGCCACTGTCTCCAAGATGGATGGCTCCCAG c.3060
S L G A T S V V N N A T V S K M D G S Q p.1020
. . . . . . g.23203
TCGGGTATCAGTGCAGATGTGGAAAAACCAAGTGCTACTGACGGCGTTCCCAAACACCAG c.3120
S G I S A D V E K P S A T D G V P K H Q p.1040
. . . . g.23245
TTTCCTCACTTCCTGGAAGAAAACAAGATTGCGGTCAGCTAA c.3162
F P H F L E E N K I A V S X p.1053
. . . . . . g.23305
gggagaacttgcgtggaaggagcaatgcagacacagtgaaatctctagaatctgctttgt c.*60
. . . . . . g.23365
tttgtaagaactcatctcctcctgttttctttttcttactgatatgcaaatgatgtttac c.*120
. . . . . . g.23425
tacgttggttgtgaccacaacctcaggcaagtgctacaatcacgattgttgctatgctgc c.*180
. . . . g.23468
tttgcaaaaagttgaaaaaataaaaaaaaaatgcataccaaaa c.*223
(downstream sequence)
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