Canonical Allele Identifier: CA2574903240

Gene: CPT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68781802_68781818del , CM000673.2:g.68781802_68781818del	GRCh38
NC_000011.9:g.68549270_68549286del , CM000673.1:g.68549270_68549286del	GRCh37
NC_000011.8:g.68305846_68305862del	NCBI36
NG_011801.1:g.65117_65133del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.1308_1324del MANE Select	ENSP00000265641.4:p.Met436IlefsTer13
ENST00000265641.9:c.1308_1324del	ENSP00000265641.4:p.Met436IlefsTer13
ENST00000376618.6:c.1308_1324del	ENSP00000365803.2:p.Met436IlefsTer13
ENST00000539743.5:c.1308_1324del	ENSP00000446108.1:p.Met436IlefsTer13
ENST00000540367.5:c.1308_1324del	ENSP00000439084.1:p.Met436IlefsTer13
NM_001031847.2:c.1308_1324del	NP_001027017.1:p.Met436IlefsTer13
NM_001876.3:c.1308_1324del	NP_001867.2:p.Met436IlefsTer13
XM_005273762.1:c.1404_1420del	XP_005273819.1:p.Met468IlefsTer13
XM_005273763.1:c.1404_1420del	XP_005273820.1:p.Met468IlefsTer13
XM_005273762.3:c.1404_1420del	XP_005273819.1:p.Met468IlefsTer13
XM_017017220.1:c.1308_1324del	XP_016872709.1:p.Met436IlefsTer13
NM_001876.4:c.1308_1324del MANE Select	NP_001867.2:p.Met436IlefsTer13
NM_001031847.3:c.1308_1324del	NP_001027017.1:p.Met436IlefsTer13