Canonical Allele Identifier: CA658657274
Gene: TMEM43 HGNC NCBI

Linked Data

ClinVar Variation Id: 466422
ClinVar RCV Id: RCV000550658 RCV003325491 RCV003532173
dbSNP Id: rs1300909566
gnomAD v3: 3-14129463-C-CA
gnomAD v4: 3-14129463-C-CA
MyVariant Identifiers: chr3:g.14170964dup (hg19) chr3:g.14170963_14170964insA (hg19) chr3:g.14129464dup (hg38) chr3:g.14129463_14129464insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129464dup , CM000665.2:g.14129464dup GRCh38
NC_000003.11:g.14170964dup , CM000665.1:g.14170964dup GRCh37
NC_000003.10:g.14145965dup NCBI36
NG_008975.1:g.9525dup , LRG_435:g.9525dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*95dup ENSP00000395617.1:n.*95dup
ENST00000306077.5:c.65dup MANE Select ENSP00000303992.5:p.Pro23AlafsTer?
ENST00000306077.4:c.65dup ENSP00000303992.4:p.Pro23AlafsTer?
ENST00000432444.1:c.*95dup ENSP00000395617.1:n.*95dup
NM_024334.2:c.65dup , LRG_435t1:c.65dup NP_077310.1:p.Pro23AlafsTer?
XM_011534109.1:c.-41dup XP_011532411.1:n.-41dup
XM_017007176.2:c.-41dup XP_016862665.1:n.-41dup
NM_024334.3:c.65dup MANE Select NP_077310.1:p.Pro23AlafsTer?
Search 100 bp 5'
Search 100 bp 3'