Canonical Allele Identifier: CA2739278223

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 2879666
• ClinVar RCV Id: RCV003600244

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14129454del , CM000665.2:g.14129454del	GRCh38
NC_000003.11:g.14170954del , CM000665.1:g.14170954del	GRCh37
NC_000003.10:g.14145955del	NCBI36
NG_008975.1:g.9515del , LRG_435:g.9515del

Transcript Alleles

HGVS	Amino-acid change
ENST00000432444.2:c.*85del	ENSP00000395617.1:n.*85del
ENST00000306077.5:c.55del MANE Select	ENSP00000303992.5:p.Thr19ProfsTer11
ENST00000306077.4:c.55del	ENSP00000303992.4:p.Thr19ProfsTer11
ENST00000432444.1:c.*85del	ENSP00000395617.1:n.*85del
NM_024334.2:c.55del , LRG_435t1:c.55del	NP_077310.1:p.Thr19ProfsTer11
XM_011534109.1:c.-51del	XP_011532411.1:n.-51del
XM_017007176.2:c.-51del	XP_016862665.1:n.-51del
NM_024334.3:c.55del MANE Select	NP_077310.1:p.Thr19ProfsTer11