Canonical Allele Identifier: CA2574903054

Gene: CPT1A

Linked Data

• gnomAD v4: 11-68759738-GCAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68759741_68759743del , CM000673.2:g.68759741_68759743del	GRCh38
NC_000011.9:g.68527209_68527211del , CM000673.1:g.68527209_68527211del	GRCh37
NC_000011.8:g.68283785_68283787del	NCBI36
NG_011801.1:g.87191_87193del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.2143-80_2143-78del MANE Select	ENSP00000265641.4:n.2143-80_2143-78del
ENST00000265641.9:c.2143-80_2143-78del	ENSP00000265641.4:n.2143-80_2143-78del
ENST00000376618.6:c.2143-80_2143-78del	ENSP00000365803.2:n.2143-80_2143-78del
ENST00000539743.5:c.2143-80_2143-78del	ENSP00000446108.1:n.2143-80_2143-78del
ENST00000540367.5:c.2143-80_2143-78del	ENSP00000439084.1:n.2143-80_2143-78del
NM_001031847.2:c.2143-80_2143-78del	NP_001027017.1:n.2143-80_2143-78del
NM_001876.3:c.2143-80_2143-78del	NP_001867.2:n.2143-80_2143-78del
XM_005273762.1:c.2239-80_2239-78del	XP_005273819.1:n.2239-80_2239-78del
XM_005273763.1:c.2239-80_2239-78del	XP_005273820.1:n.2239-80_2239-78del
XM_005273762.3:c.2239-80_2239-78del	XP_005273819.1:n.2239-80_2239-78del
XM_017017220.1:c.2143-80_2143-78del	XP_016872709.1:n.2143-80_2143-78del
NM_001876.4:c.2143-80_2143-78del MANE Select	NP_001867.2:n.2143-80_2143-78del
NM_001031847.3:c.2143-80_2143-78del	NP_001027017.1:n.2143-80_2143-78del