Canonical Allele Identifier: CA2497319739

Gene: CPT1A

Linked Data

• dbSNP Id: rs1855711614
• gnomAD v4: 11-68794776-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68794783del , CM000673.2:g.68794783del	GRCh38
NC_000011.9:g.68562251del , CM000673.1:g.68562251del	GRCh37
NC_000011.8:g.68318827del	NCBI36
NG_011801.1:g.52155del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265641.10:c.879+27del MANE Select	ENSP00000265641.4:n.879+27del
ENST00000265641.9:c.879+27del	ENSP00000265641.4:n.879+27del
ENST00000376618.6:c.879+27del	ENSP00000365803.2:n.879+27del
ENST00000538994.1:c.135+27del	ENSP00000454332.1:n.135+27del
ENST00000539743.5:c.879+27del	ENSP00000446108.1:n.879+27del
ENST00000540367.5:c.879+27del	ENSP00000439084.1:n.879+27del
NM_001031847.2:c.879+27del	NP_001027017.1:n.879+27del
NM_001876.3:c.879+27del	NP_001867.2:n.879+27del
XM_005273762.1:c.975+27del	XP_005273819.1:n.975+27del
XM_005273763.1:c.975+27del	XP_005273820.1:n.975+27del
XM_005273762.3:c.975+27del	XP_005273819.1:n.975+27del
XM_017017220.1:c.879+27del	XP_016872709.1:n.879+27del
NM_001876.4:c.879+27del MANE Select	NP_001867.2:n.879+27del
NM_001031847.3:c.879+27del	NP_001027017.1:n.879+27del