Canonical Allele Identifier: CA2664571094

Gene: TMEM43

Linked Data

• gnomAD v4: 3-14141648-CTTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14141649_14141652del , CM000665.2:g.14141649_14141652del	GRCh38
NC_000003.11:g.14183149_14183152del , CM000665.1:g.14183149_14183152del	GRCh37
NC_000003.10:g.14158150_14158153del	NCBI36
NG_008975.1:g.21710_21713del , LRG_435:g.21710_21713del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*1087_*1090del	ENSP00000395617.1:n.*1087_*1090del
ENST00000306077.5:c.1057_1060del MANE Select	ENSP00000303992.5:p.Phe353ValfsTer6
ENST00000306077.4:c.1057_1060del	ENSP00000303992.4:p.Phe353ValfsTer6
ENST00000601399.3:n.327+2352_327+2355del
ENST00000608606.1:c.236+2352_236+2355del
NM_024334.2:c.1057_1060del , LRG_435t1:c.1057_1060del	NP_077310.1:p.Phe353ValfsTer6
XM_011534109.1:c.952_955del	XP_011532411.1:p.Phe318ValfsTer6
XM_017007176.2:c.952_955del	XP_016862665.1:p.Phe318ValfsTer6
NM_024334.3:c.1057_1060del MANE Select	NP_077310.1:p.Phe353ValfsTer6