Canonical Allele Identifier: CA939164614

Gene: CPT1A

Linked Data

• gnomAD v3: 11-68759394-C-CA
• gnomAD v4: 11-68759394-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68759394_68759395insA , CM000673.2:g.68759394_68759395insA	GRCh38
NC_000011.9:g.68526862_68526863insA , CM000673.1:g.68526862_68526863insA	GRCh37
NC_000011.8:g.68283438_68283439insA	NCBI36
NG_011801.1:g.87537_87538insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.2235+174_2235+175insT MANE Select	ENSP00000265641.4:n.2235+174_2235+175insT
ENST00000265641.9:c.2235+174_2235+175insT	ENSP00000265641.4:n.2235+174_2235+175insT
ENST00000376618.6:c.2235+174_2235+175insT	ENSP00000365803.2:n.2235+174_2235+175insT
ENST00000539743.5:c.2235+174_2235+175insT	ENSP00000446108.1:n.2235+174_2235+175insT
ENST00000540367.5:c.2235+174_2235+175insT	ENSP00000439084.1:n.2235+174_2235+175insT
NM_001031847.2:c.2235+174_2235+175insT	NP_001027017.1:n.2235+174_2235+175insT
NM_001876.3:c.2235+174_2235+175insT	NP_001867.2:n.2235+174_2235+175insT
XM_005273762.1:c.2331+174_2331+175insT	XP_005273819.1:n.2331+174_2331+175insT
XM_005273763.1:c.2331+174_2331+175insT	XP_005273820.1:n.2331+174_2331+175insT
XM_005273762.3:c.2331+174_2331+175insT	XP_005273819.1:n.2331+174_2331+175insT
XM_017017220.1:c.2235+174_2235+175insT	XP_016872709.1:n.2235+174_2235+175insT
NM_001876.4:c.2235+174_2235+175insT MANE Select	NP_001867.2:n.2235+174_2235+175insT
NM_001031847.3:c.2235+174_2235+175insT	NP_001027017.1:n.2235+174_2235+175insT