Canonical Allele Identifier: CA2695214941

Gene: CPT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68781940_68781942del , CM000673.2:g.68781940_68781942del	GRCh38
NC_000011.9:g.68549408_68549410del , CM000673.1:g.68549408_68549410del	GRCh37
NC_000011.8:g.68305984_68305986del	NCBI36
NG_011801.1:g.64993_64995del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.1184_1186del MANE Select	ENSP00000265641.4:p.Arg395del
ENST00000265641.9:c.1184_1186del	ENSP00000265641.4:p.Arg395del
ENST00000376618.6:c.1184_1186del	ENSP00000365803.2:p.Arg395del
ENST00000539743.5:c.1184_1186del	ENSP00000446108.1:p.Arg395del
ENST00000540367.5:c.1184_1186del	ENSP00000439084.1:p.Arg395del
NM_001031847.2:c.1184_1186del	NP_001027017.1:p.Arg395del
NM_001876.3:c.1184_1186del	NP_001867.2:p.Arg395del
XM_005273762.1:c.1280_1282del	XP_005273819.1:p.Arg427del
XM_005273763.1:c.1280_1282del	XP_005273820.1:p.Arg427del
XM_005273762.3:c.1280_1282del	XP_005273819.1:p.Arg427del
XM_017017220.1:c.1184_1186del	XP_016872709.1:p.Arg395del
NM_001876.4:c.1184_1186del MANE Select	NP_001867.2:p.Arg395del
NM_001031847.3:c.1184_1186del	NP_001027017.1:p.Arg395del