Canonical Allele Identifier: CA1045276624
Gene: TMEM43 HGNC NCBI

Linked Data

dbSNP Id: rs1695060397
gnomAD v3: 3-14129305-AC-A
gnomAD v4: 3-14129305-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129306del , CM000665.2:g.14129306del GRCh38
NC_000003.11:g.14170806del , CM000665.1:g.14170806del GRCh37
NC_000003.10:g.14145807del NCBI36
NG_008975.1:g.9367del , LRG_435:g.9367del

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*43-106del ENSP00000395617.1:n.*43-106del
ENST00000306077.5:c.13-106del MANE Select ENSP00000303992.5:n.13-106del
ENST00000306077.4:c.13-106del ENSP00000303992.4:n.13-106del
ENST00000432444.1:c.*43-106del ENSP00000395617.1:n.*43-106del
NM_024334.2:c.13-106del , LRG_435t1:c.13-106del NP_077310.1:n.13-106del
XM_011534109.1:c.-93-106del XP_011532411.1:n.-93-106del
XM_017007176.2:c.-93-106del XP_016862665.1:n.-93-106del
NM_024334.3:c.13-106del MANE Select NP_077310.1:n.13-106del
Search 100 bp 5'
Search 100 bp 3'