(used for variant description)
(last modified October 24, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_174917.3 in the ACSF3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031961.1, covering ACSF3 transcript NM_174917.3.
(upstream sequence)
. g.5017
gggggacgcgcttgggc c.-361
. . . . . . g.5077
gacggacgcgccgcgccggggaagctgttgggcgccggaactggtccggcccgactcacg c.-301
. . . . . . g.5137
accccgcgggacccggccggaacccggcccgaccccggcgcgcgcgcggcggaggacgag c.-241
. . . . . | 02 . g.9795
gaagagttgtggcgaggcagatcctgccccgtggccgcggccgtctc | gtgtcccaccggc c.-181
. . . . . . g.9855
cttccgggttccagcgccaggcctggtgcctgccccaggaggatgagcatttgcattgcc c.-121
. . . . . . g.9915
tgcaccttatcgtgcccttccacctgctgaagcagctgtgcctgccgctcttgtgaactg c.-61
. . . . | 03 . g.11873
cgaacttccccttacctcctctctctggctcgggagctgg | ctcggccgcctgtcagtgca c.-1
. . . . . . g.11933
ATGCTGCCCCATGTGGTGCTCACCTTCCGGCGCCTGGGCTGCGCCTTGGCGTCCTGCCGG c.60
M L P H V V L T F R R L G C A L A S C R p.20
. . . . . . g.11993
CTGGCGCCTGCGAGACACAGAGGAAGTGGTCTTCTGCACACAGCCCCAGTGGCCCGCTCG c.120
L A P A R H R G S G L L H T A P V A R S p.40
. . . . . . g.12053
GACAGGAGCGCCCCGGTGTTCACCCGTGCCCTGGCCTTTGGGGACAGAATCGCCCTGGTT c.180
D R S A P V F T R A L A F G D R I A L V p.60
. . . . . . g.12113
GACCAGCACGGCCGCCACACGTACAGGGAGCTTTATTCCCGCAGCCTTCGCCTGTCCCAG c.240
D Q H G R H T Y R E L Y S R S L R L S Q p.80
. . . . . . g.12173
GAGATCTGCAGGCTCTGCGGGTGTGTCGGCGGGGACCTCCGGGAGGAGAGGGTCTCCTTC c.300
E I C R L C G C V G G D L R E E R V S F p.100
. . . . . . g.12233
CTATGCGCTAACGATGCCTCCTACGTCGTGGCCCAGTGGGCGTCATGGATGAGTGGCGGT c.360
L C A N D A S Y V V A Q W A S W M S G G p.120
. . . . . . g.12293
GTGGCAGTCCCCCTCTACAGGAAGCATCCCGCGGCCCAGCTGGAGTATGTCATCTGCGAC c.420
V A V P L Y R K H P A A Q L E Y V I C D p.140
. . . . . . g.12353
TCCCAGAGCTCTGTGGTCCTTGCCAGCCAGGAGTACCTGGAGCTCCTGAGCCCGGTGGTC c.480
S Q S S V V L A S Q E Y L E L L S P V V p.160
. . . . . . g.12413
AGGAAGCTGGGGGTCCCGCTGCTGCCGCTCACACCAGCCATCTACACTGGAGCAGTAGAG c.540
R K L G V P L L P L T P A I Y T G A V E p.180
. . . . . . g.12473
GAACCGGCAGAGGTCCCGGTCCCAGAGCAGGGATGGAGGAACAAGGGCGCCATGATCATC c.600
E P A E V P V P E Q G W R N K G A M I I p.200
. . . . . . g.12533
TACACCAGTGGGACCACGGGGAGGCCCAAGGGCGTGCTGAGCACGCACCAAAACATCAGG c.660
Y T S G T T G R P K G V L S T H Q N I R p.220
| 04 . . . . . . g.13849
GCTGTG | GTGACCGGGCTGGTCCACAAGTGGGCATGGACCAAAGACGACGTGATCCTCCAC c.720
A V | V T G L V H K W A W T K D D V I L H p.240
. . . . . . g.13909
GTGCTCCCGCTGCACCACGTCCATGGTGTGGTCAACGCGCTGCTCTGTCCTCTCTGGGTG c.780
V L P L H H V H G V V N A L L C P L W V p.260
. . . . | 05 . . g.23301
GGAGCCACCTGTGTGATGATGCCTGAGTTCAGCCCTCAGCAG | GTTTGGGAAAAGTTCTTA c.840
G A T C V M M P E F S P Q Q | V W E K F L p.280
. . . . . . g.23361
AGTTCTGAAACGCCGCGGATCAATGTCTTTATGGCAGTGCCTACAATATACACCAAGCTG c.900
S S E T P R I N V F M A V P T I Y T K L p.300
. . . . . . g.23421
ATGGAGTACTACGACAGGCATTTTACCCAGCCGCACGCCCAGGATTTCTTGCGTGCAGTT c.960
M E Y Y D R H F T Q P H A Q D F L R A V p.320
. | 06. . . . . g.25573
TGTGAAGAAAAAATTAG | GCTGATGGTCTCAGGCTCAGCTGCCCTGCCCCTCCCAGTGCTG c.1020
C E E K I R | L M V S G S A A L P L P V L p.340
. . . . . . g.25633
GAGAAGTGGAAGAACATCACGGGCCACACCCTGCTGGAGCGGTATGGCATGACCGAGATC c.1080
E K W K N I T G H T L L E R Y G M T E I p.360
. . . . | 07 . . g.32006
GGCATGGCTCTGTCCGGGCCCCTGACCACTGCCGTGCGCCTGCCAG | GTTCCGTGGGGACC c.1140
G M A L S G P L T T A V R L P G | S V G T p.380
. . . . . . g.32066
CCACTGCCTGGAGTACAGGTGCGCATTGTCTCAGAAAACCCACAGAGGGAAGCCTGCTCC c.1200
P L P G V Q V R I V S E N P Q R E A C S p.400
. . . | 08 . . g.44348
TACACCATCCACGCAGAGGGAGACGAGAGGGGGACCAAG | GTGACCCCAGGGTTTGAAGAA c.1260
Y T I H A E G D E R G T K | V T P G F E E p.420
. . . . . . g.44408
AAGGAGGGGGAGCTGCTGGTGAGGGGACCCTCCGTGTTTCGAGAATACTGGAATAAACCA c.1320
K E G E L L V R G P S V F R E Y W N K P p.440
. . . . | 09 . . g.56472
GAAGAAACTAAGAGTGCATTCACCCTGGATGGCTGGTTTAAGACAG | GGGACACCGTGGTG c.1380
E E T K S A F T L D G W F K T G | D T V V p.460
. . . . . . g.56532
TTTAAGGATGGCCAGTACTGGATCCGAGGCCGGACCTCAGTGGACATCATCAAGACTGGA c.1440
F K D G Q Y W I R G R T S V D I I K T G p.480
. . . . . . g.56592
GGCTACAAGGTCAGCGCCCTGGAGGTGGAGTGGCACCTGCTGGCCCACCCCAGCATCACA c.1500
G Y K V S A L E V E W H L L A H P S I T p.500
| 10 . . . . . . g.57188
G | ATGTGGCTGTGATTGGAGTTCCGGATATGACATGGGGCCAGCGGGTCACTGCTGTGGTG c.1560
D | V A V I G V P D M T W G Q R V T A V V p.520
. . . . . | 11 . g.65288
ACCCTCCGAGAAGGACACTCACTGTCCCACAGGGAGCTCAAAGAGTGGGCCAG | AAATGTC c.1620
T L R E G H S L S H R E L K E W A R | N V p.540
. . . . . . g.65348
CTGGCCCCGTACGCGGTGCCCTCGGAGCTGGTGCTGGTGGAGGAGATCCCGCGGAACCAG c.1680
L A P Y A V P S E L V L V E E I P R N Q p.560
. . . . . g.65399
ATGGGCAAGATTGACAAGAAGGCGCTCATCAGGCACTTCCACCCCTCATGA c.1731
M G K I D K K A L I R H F H P S X p.576
. . . . . . g.65459
cccggcagactgggactgcgggtctggtggggagcagcagacgtccccttcacaccgaga c.*60
. . . . . . g.65519
accacgggggcccgtccaagacctggcctcccttaaacctgaaccccccaaatcaggtca c.*120
. . . . . . g.65579
cgtagaatcaagaactgtttgggatgaaatcaccatgtggggtccccagcctcgggccag c.*180
. . . . . . g.65639
ttgttgcagctcaaggagaccgtccctggtgtcacctctgcctggtcaccgccgacctca c.*240
. . . . . . g.65699
tctgtgcagcgcggtgcagccagcccctggccccacgtgctgaggcacctcccgccccac c.*300
. . . . . . g.65759
agtgccctgcagttgccaggctctccagggcaggtcccagaggtttcccacaaaaaacaa c.*360
. . . . . . g.65819
agactccactggaggaaacaagcccctgtcccacgccgtctgcacgtgcctgtgcctcac c.*420
. . . . . . g.65879
ccagagccagtgtctcccggcccacataggaggtctgggcagccacccagggggccctcc c.*480
. . . . . . g.65939
tgggaggagctgagggttcacaagcctcccagaaccagccctgtcccatgggttccgtgc c.*540
. . . . . . g.65999
atttcctggtgctgctcttggaggagagcagctcccactgtggggacacctgccaccctg c.*600
. . . . . . g.66059
cacactactgtgtgtccatcagcatgtgtcacagaaagtgcgtggacggatggccccgga c.*660
. . . . . . g.66119
gctgctctgccgtgaccctgcctcaccccccagcgcagggactttccaggtcatctccac c.*720
. . . . . . g.66179
accagcccctcagccggtgaaccctctctcccatcaccgtctccacccagacccccacct c.*780
. . . . . . g.66239
gccccatggcccccatttcatgtctgtggctcaccagcttttccccagacccagctccgg c.*840
. . . . . . g.66299
agcccacaggcgtggccgatgcagaaacctcaggaaggtgtgttgtgaatgttgggtgca c.*900
. . . . . . g.66359
cccacgttgcatttacttagcggggccaattcagatgcacaggggccacatgcagaatcc c.*960
. . . . . . g.66419
agaagtttctggacaattttcagaagaataggctgcctcctccccacagcctgggggaag c.*1020
. . . . . . g.66479
taacagtcatcgcccagcagtgtctggcctgaacttacccagaacattctgcccccggaa c.*1080
. . . . . . g.66539
tgcacgtctgaaagagtggccagaaacgagtgtgccgggcaggaggccagccccatctca c.*1140
. . . . . . g.66599
ggctcacgtgcctctgacaggagaccagccccatctcaggctcacatgcctcgcggacag c.*1200
. . . . . . g.66659
ttggacgtggcctggggcccctgctcacttgagcatgtcgcccaccaagcttgtctgagg c.*1260
. . . . . . g.66719
ccacagagcagcgtcccagccctgttttccaggactggtgggtgccccagtccacggccc c.*1320
. . . . . . g.66779
tgccccacccgaactcctgcctcacggtgtggccttgtgcatccccatggcctgaccccg c.*1380
. . . . . . g.66839
ggaacagtcagaggaaggggtcccgccctcccgccagaggcctggacccaagggaacggc c.*1440
. . . . . . g.66899
agtcagagactacagtccagacgtttgtgtctaggccttgctggtagctaaggaaatgcc c.*1500
. . . . . g.66955
ttctgttgggaaaaggtcaaatttaacatagcaaaatttttacttaattccactaa c.*1556
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 20a
©2004-2017 Leiden University Medical Center