Canonical Allele Identifier: CA2614734946

Gene: CPT1A

Linked Data

• gnomAD v4: 11-68781694-GGTGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68781698_68781701del , CM000673.2:g.68781698_68781701del	GRCh38
NC_000011.9:g.68549166_68549169del , CM000673.1:g.68549166_68549169del	GRCh37
NC_000011.8:g.68305742_68305745del	NCBI36
NG_011801.1:g.65234_65237del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.1352+73_1352+76del MANE Select	ENSP00000265641.4:n.1352+73_1352+76del
ENST00000265641.9:c.1352+73_1352+76del	ENSP00000265641.4:n.1352+73_1352+76del
ENST00000376618.6:c.1352+73_1352+76del	ENSP00000365803.2:n.1352+73_1352+76del
ENST00000539743.5:c.1352+73_1352+76del	ENSP00000446108.1:n.1352+73_1352+76del
ENST00000540367.5:c.1352+73_1352+76del	ENSP00000439084.1:n.1352+73_1352+76del
NM_001031847.2:c.1352+73_1352+76del	NP_001027017.1:n.1352+73_1352+76del
NM_001876.3:c.1352+73_1352+76del	NP_001867.2:n.1352+73_1352+76del
XM_005273762.1:c.1448+73_1448+76del	XP_005273819.1:n.1448+73_1448+76del
XM_005273763.1:c.1448+73_1448+76del	XP_005273820.1:n.1448+73_1448+76del
XM_005273762.3:c.1448+73_1448+76del	XP_005273819.1:n.1448+73_1448+76del
XM_017017220.1:c.1352+73_1352+76del	XP_016872709.1:n.1352+73_1352+76del
NM_001876.4:c.1352+73_1352+76del MANE Select	NP_001867.2:n.1352+73_1352+76del
NM_001031847.3:c.1352+73_1352+76del	NP_001027017.1:n.1352+73_1352+76del