Canonical Allele Identifier: CA2614738521

Gene: CPT1A

Linked Data

• gnomAD v4: 11-68812572-CCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68812573_68812574del , CM000673.2:g.68812573_68812574del	GRCh38
NC_000011.9:g.68580041_68580042del , CM000673.1:g.68580041_68580042del	GRCh37
NC_000011.8:g.68336617_68336618del	NCBI36
NG_011801.1:g.34358_34359del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.144_145del MANE Select	ENSP00000265641.4:p.Asn48LysfsTer?
ENST00000265641.9:c.144_145del	ENSP00000265641.4:p.Asn48LysfsTer?
ENST00000376618.6:c.144_145del	ENSP00000365803.2:p.Asn48LysfsTer?
ENST00000539743.5:c.144_145del	ENSP00000446108.1:p.Asn48LysfsTer?
ENST00000540367.5:c.144_145del	ENSP00000439084.1:p.Asn48LysfsTer?
ENST00000561996.1:c.144_145del	ENSP00000457663.1:p.Asn48LysfsTer?
ENST00000565318.5:c.144_145del	ENSP00000457826.1:p.Asn48LysfsTer?
ENST00000569129.5:c.144_145del	ENSP00000455116.1:p.Asn48LysfsTer?
NM_001031847.2:c.144_145del	NP_001027017.1:p.Asn48LysfsTer?
NM_001876.3:c.144_145del	NP_001867.2:p.Asn48LysfsTer?
XM_005273762.1:c.240_241del	XP_005273819.1:p.Asn80LysfsTer?
XM_005273763.1:c.240_241del	XP_005273820.1:p.Asn80LysfsTer?
XM_005273762.3:c.240_241del	XP_005273819.1:p.Asn80LysfsTer?
XM_017017220.1:c.144_145del	XP_016872709.1:p.Asn48LysfsTer?
NM_001876.4:c.144_145del MANE Select	NP_001867.2:p.Asn48LysfsTer?
NM_001031847.3:c.144_145del	NP_001027017.1:p.Asn48LysfsTer?