(used for variant description)
(last modified May 12, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_001170574.1 in the FAM46D gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering FAM46D transcript NM_001170574.1.
(upstream sequence)
. . . g.5034
acgcgccccagctcccaccttgggtccttcgcct c.-301
. . . | 02 . . . g.5179
gcacccagtctaacctggcacctaaag | atttcactctgtccttggcccctcaccattgtc c.-241
. . . . | 03 . . g.12022
tcagagtttaagccttaacggatgaaggaaaaag | attatttgtgaaaagaaattatctaa c.-181
. . . . | 04 . g.108127
cacttctcatctatctaactggagtttcactagctggag | tttttctggttggtgtattac c.-121
. . . . . . g.108187
tttattcagtgataatatgaaaattactatcttcactgaaggatctactgaataatcatt c.-61
. . . . . | 05 . g.112036
ttaactcaactatattgcattcttgaaagcaatcctttcaat | tgatctactgacttcaca c.-1
. . . . . . g.112096
ATGTCTGAAATCAGATTCACCAATCTCACTTGGGATCAAGTTATAACACTGGATCAAGTG c.60
M S E I R F T N L T W D Q V I T L D Q V p.20
. . . . . . g.112156
TTAGATGAAGTAATTCCAATTCATGGAAAGGGGAATTTCCCCACAATGGAGGTAAAACCA c.120
L D E V I P I H G K G N F P T M E V K P p.40
. . . . . . g.112216
AAAGACATCATTCATGTTGTGAAAGATCAACTCATAGGGCAAGGAATTATTGTTAAAGAT c.180
K D I I H V V K D Q L I G Q G I I V K D p.60
. . . . . . g.112276
GCCAGATTGAATGGTTCCGTAGCAAGTTACATACTTGCAAGCCACAATGGAATCAGCTAT c.240
A R L N G S V A S Y I L A S H N G I S Y p.80
. . . . . . g.112336
AAGGATCTGGACGTTATTTTTGGTGTTGAGCTTCCAGGTAACGAAGAATTTCAGGTTGTT c.300
K D L D V I F G V E L P G N E E F Q V V p.100
. . . . . . g.112396
AAAGATGCAGTTCTAGACTGTCTACTTGACTTTTTACCAAAAGATGTAAAGAAGGAAAAG c.360
K D A V L D C L L D F L P K D V K K E K p.120
. . . . . . g.112456
CTCTCCCCAGATATCATGAAAGACGCTTACGTACAGAAATTGGTCAAGGTTTGCAATGGG c.420
L S P D I M K D A Y V Q K L V K V C N G p.140
. . . . . . g.112516
CATGATTGTTGGAGTCTTATCTCCCTTTCAAATAACACTGGGAAGAATTTAGAACTAAAA c.480
H D C W S L I S L S N N T G K N L E L K p.160
. . . . . . g.112576
TTTGTGAGTTCACTCAGACGGCAGTTTGAATTTAGTGTAGATTCCTTTCAAATTGTTTTG c.540
F V S S L R R Q F E F S V D S F Q I V L p.180
. . . . . . g.112636
GATCCCATGTTAGACTTCTACAGTGACAAAAATGCCAAGCTAACCAAAGAATCCTATCCT c.600
D P M L D F Y S D K N A K L T K E S Y P p.200
. . . . . . g.112696
GTTGTGGTAGCTGAAAGCATGTATGGAGACTTCCAGGAAGCAATGACACATTTGCAACAC c.660
V V V A E S M Y G D F Q E A M T H L Q H p.220
. . . . . . g.112756
AAGCTCATATGTACCAGGAAACCTGAAGAGATTAGAGGTGGTGGCCTTCTGAAGTACTGC c.720
K L I C T R K P E E I R G G G L L K Y C p.240
. . . . . . g.112816
AGCTTGCTGGTTCATGGCTTCAAGCCAGCCTGTATGTCAGAAATCAAAAACCTAGAACGT c.780
S L L V H G F K P A C M S E I K N L E R p.260
. . . . . . g.112876
TATATGTGCTCTAGATTCTTTATTGATTTTCCTCATATAGAAGAACAGCAAAAGAAAATT c.840
Y M C S R F F I D F P H I E E Q Q K K I p.280
. . . . . . g.112936
GAATCATACCTCCACAACCATTTCATAGGTGAAGGAATGACCAAGTATGACTACCTTATG c.900
E S Y L H N H F I G E G M T K Y D Y L M p.300
. . . . . . g.112996
ACCTTGCATGGAGTTGTGAATGAAAGCACTGTTTGCCTCATGAGTTATGAAAGAAGACAG c.960
T L H G V V N E S T V C L M S Y E R R Q p.320
. . . . . . g.113056
ATTCTCCACCTGATCACCATGATGGCTTTGAAAGTACTTGGAGAACTAAATATTCTACCC c.1020
I L H L I T M M A L K V L G E L N I L P p.340
. . . . . . g.113116
AATACACAAAAGGTAACTTGCTTTTATCAGCCTGCTCCGTACTTTGCAGCTGAGGCAAGG c.1080
N T Q K V T C F Y Q P A P Y F A A E A R p.360
. . . . . . g.113176
TACCCTATTTATGTAATACCTGAGCCACCCCCCGTTAGCTTCCAGCCATACCACCCACTG c.1140
Y P I Y V I P E P P P V S F Q P Y H P L p.380
. . . g.113206
CACTTTCGTGGATCAAATGGTATGAGTTAA c.1170
H F R G S N G M S X p.389
. . . . . . g.113266
aaaatacacatgcaaccatagaaactttgatttaattaaacaccatttaaaagcaagttt c.*60
. . . . . . g.113326
ccaaatgtaaaattcaagatctgtttttatttttgtacagttaccaattattttcaatta c.*120
. . . . . . g.113386
cagttgatggaatagtagttaccaactatttttgatcaattaagccatcatagtaaatac c.*180
. . . . . . g.113446
aatatctataaaccaaccactttaaatgtttttcaaacgttattgactagctataataac c.*240
. . . . . . g.113506
tttcaaatgttgtgttccccttgaagtgattttcaaatcttttgactacttgtgactttc c.*300
. . . . . . g.113566
aaatttactgtgacaaatatattagagatgcctgcatctttgactataacataaaaggac c.*360
. . . . . . g.113626
agattcatgttttaaaattaagatgtacagtgaagtatcaaattttttatattcagtcag c.*420
. . . . . . g.113686
ttcctttgttacatttagttctttttttctattgaacaataccatcaataaatgttcagt c.*480
. . . . . . g.113746
acttaacagaaatgcctaatttcaaaagcaacagattcagaagacattaaaaccctggac c.*540
. . . . . . g.113806
ttttcaagcatttttttttgacaattaaattgggttggatacaaaaatcctactatagtt c.*600
. . . . . . g.113866
taaaggaatactggaaaaaaatggttctggaaagccctggacattagtaatttgtcatct c.*660
. . . . . . g.113926
atataataaaacatttagttaatttgtggatttgaataacaataccatacagctgtgcaa c.*720
. . . . . . g.113986
ctactactgagatcagatacagggttttttgcccctcaaaataagttaaaacgaatgaaa c.*780
. . . . . . g.114046
atgaccagctctgaatgtgaaagctttctatcatcatctactacaaagagactctaaatg c.*840
. . . . . . g.114106
gcaaacaggaaaaaaacaggcagaggtttatagccatagcatttaccattttatggctta c.*900
. . . . . . g.114166
tttgaaaaacatctttatgttgagaaacattccatttcagtaagttaaaatattttcatt c.*960
. . . . . . g.114226
gtaactaaatgaagcaggtttttcattttgcctttaccaaagatcattttctaacatgcc c.*1020
. . . . . . g.114286
actcaagtgcctcttcgtgtgaatttttgcgtaacactataatttattcaacaactgtat c.*1080
. . . . . . g.114346
acctttacagtatatctaaatatatacttactacatcgagtatactgctagaaaaatcta c.*1140
. . . . . . g.114406
ccagtgggattaaaaatgtattttcttcccataatgaaaataattcatgaccaatattac c.*1200
. . . . . . g.114466
ctgaagtgtcagaagaggagctgtcttaaattaatatggatcaggccattggaaaacttc c.*1260
. . . . . . g.114526
agtatttccacttggttatgattttttgtgagtttccatttcagtttttattgaccatca c.*1320
. . . . . . g.114586
cgttttctatcacaacatgacctgacagttgtatcccgataatttgccagttatagactg c.*1380
. . . . . . g.114646
tgcttatcttcactgtattacaatattggacagaagtacaccaaatacggcattttcaaa c.*1440
. . . . . . g.114706
taaccaatatttctgagatgttttataccacagcacaagtggccatcagtatatttttaa c.*1500
. . . . . . g.114766
agaattatatatcacagaaccctgaggctttaaaacactatggacttaccactttcttga c.*1560
. . . . g.114808
caaagaatttgtaattacaataaaatatttagaaatgaaagg c.*1602
(downstream sequence)
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