Canonical Allele Identifier: CA2574903446

Gene: CPT1A

Linked Data

• gnomAD v4: 11-68804094-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68804096del , CM000673.2:g.68804096del	GRCh38
NC_000011.9:g.68571564del , CM000673.1:g.68571564del	GRCh37
NC_000011.8:g.68328140del	NCBI36
NG_011801.1:g.42837del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.460del MANE Select	ENSP00000265641.4:p.Val154SerfsTer30
ENST00000265641.9:c.460del	ENSP00000265641.4:p.Val154SerfsTer30
ENST00000376618.6:c.460del	ENSP00000365803.2:p.Val154SerfsTer30
ENST00000539743.5:c.460del	ENSP00000446108.1:p.Val154SerfsTer30
ENST00000540367.5:c.460del	ENSP00000439084.1:p.Val154SerfsTer30
NM_001031847.2:c.460del	NP_001027017.1:p.Val154SerfsTer30
NM_001876.3:c.460del	NP_001867.2:p.Val154SerfsTer30
XM_005273762.1:c.556del	XP_005273819.1:p.Val186SerfsTer30
XM_005273763.1:c.556del	XP_005273820.1:p.Val186SerfsTer30
XM_005273762.3:c.556del	XP_005273819.1:p.Val186SerfsTer30
XM_017017220.1:c.460del	XP_016872709.1:p.Val154SerfsTer30
NM_001876.4:c.460del MANE Select	NP_001867.2:p.Val154SerfsTer30
NM_001031847.3:c.460del	NP_001027017.1:p.Val154SerfsTer30