Canonical Allele Identifier: CA2740098009

Gene: CPT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68799221del , CM000673.2:g.68799221del	GRCh38
NC_000011.9:g.68566689del , CM000673.1:g.68566689del	GRCh37
NC_000011.8:g.68323265del	NCBI36
NG_011801.1:g.47712del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265641.10:c.691del MANE Select	ENSP00000265641.4:p.Tyr231ThrfsTer2
ENST00000265641.9:c.691del	ENSP00000265641.4:p.Tyr231ThrfsTer2
ENST00000376618.6:c.691del	ENSP00000365803.2:p.Tyr231ThrfsTer2
ENST00000538994.1:c.-54del	ENSP00000454332.1:n.-54del
ENST00000539743.5:c.691del	ENSP00000446108.1:p.Tyr231ThrfsTer2
ENST00000540367.5:c.691del	ENSP00000439084.1:p.Tyr231ThrfsTer2
NM_001031847.2:c.691del	NP_001027017.1:p.Tyr231ThrfsTer2
NM_001876.3:c.691del	NP_001867.2:p.Tyr231ThrfsTer2
XM_005273762.1:c.787del	XP_005273819.1:p.Tyr263ThrfsTer2
XM_005273763.1:c.787del	XP_005273820.1:p.Tyr263ThrfsTer2
XM_005273762.3:c.787del	XP_005273819.1:p.Tyr263ThrfsTer2
XM_017017220.1:c.691del	XP_016872709.1:p.Tyr231ThrfsTer2
NM_001876.4:c.691del MANE Select	NP_001867.2:p.Tyr231ThrfsTer2
NM_001031847.3:c.691del	NP_001027017.1:p.Tyr231ThrfsTer2