Canonical Allele Identifier: CA2614734944

Gene: CPT1A

Linked Data

• gnomAD v4: 11-68781691-AGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68781694_68781695del , CM000673.2:g.68781694_68781695del	GRCh38
NC_000011.9:g.68549162_68549163del , CM000673.1:g.68549162_68549163del	GRCh37
NC_000011.8:g.68305738_68305739del	NCBI36
NG_011801.1:g.65239_65240del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.1352+78_1352+79del MANE Select	ENSP00000265641.4:n.1352+78_1352+79del
ENST00000265641.9:c.1352+78_1352+79del	ENSP00000265641.4:n.1352+78_1352+79del
ENST00000376618.6:c.1352+78_1352+79del	ENSP00000365803.2:n.1352+78_1352+79del
ENST00000539743.5:c.1352+78_1352+79del	ENSP00000446108.1:n.1352+78_1352+79del
ENST00000540367.5:c.1352+78_1352+79del	ENSP00000439084.1:n.1352+78_1352+79del
NM_001031847.2:c.1352+78_1352+79del	NP_001027017.1:n.1352+78_1352+79del
NM_001876.3:c.1352+78_1352+79del	NP_001867.2:n.1352+78_1352+79del
XM_005273762.1:c.1448+78_1448+79del	XP_005273819.1:n.1448+78_1448+79del
XM_005273763.1:c.1448+78_1448+79del	XP_005273820.1:n.1448+78_1448+79del
XM_005273762.3:c.1448+78_1448+79del	XP_005273819.1:n.1448+78_1448+79del
XM_017017220.1:c.1352+78_1352+79del	XP_016872709.1:n.1352+78_1352+79del
NM_001876.4:c.1352+78_1352+79del MANE Select	NP_001867.2:n.1352+78_1352+79del
NM_001031847.3:c.1352+78_1352+79del	NP_001027017.1:n.1352+78_1352+79del