Canonical Allele Identifier: CA051563
Gene: TMEM43 HGNC NCBI

Linked Data

dbSNP Id: rs752938561
ExAC: 3:14170900 C / CT
gnomAD v2: 3-14170900-C-CT
gnomAD v4: 3-14129400-C-CT
MyVariant Identifiers: chr3:g.14170900_14170901insT (hg19) chr3:g.14129400_14129401insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129405dup , CM000665.2:g.14129405dup GRCh38
NC_000003.11:g.14170905dup , CM000665.1:g.14170905dup GRCh37
NC_000003.10:g.14145906dup NCBI36
NG_008975.1:g.9466dup , LRG_435:g.9466dup

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.*43-7dup ENSP00000395617.1:n.*43-7dup
ENST00000306077.5:c.13-7dup MANE Select ENSP00000303992.5:n.13-7dup
ENST00000306077.4:c.13-7dup ENSP00000303992.4:n.13-7dup
ENST00000432444.1:c.*43-7dup ENSP00000395617.1:n.*43-7dup
NM_024334.2:c.13-7dup , LRG_435t1:c.13-7dup NP_077310.1:n.13-7dup
XM_011534109.1:c.-93-7dup XP_011532411.1:n.-93-7dup
XM_017007176.2:c.-93-7dup XP_016862665.1:n.-93-7dup
NM_024334.3:c.13-7dup MANE Select NP_077310.1:n.13-7dup
Search 100 bp 5'
Search 100 bp 3'