Canonical Allele Identifier: CA2614735330

Gene: CPT1A

Linked Data

• gnomAD v4: 11-68784684-C-CTTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68784684_68784685insTTGG , CM000673.2:g.68784684_68784685insTTGG	GRCh38
NC_000011.9:g.68552152_68552153insTTGG , CM000673.1:g.68552152_68552153insTTGG	GRCh37
NC_000011.8:g.68308728_68308729insTTGG	NCBI36
NG_011801.1:g.62247_62248insCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.1163+130_1163+131insCCAA MANE Select	ENSP00000265641.4:n.1163+130_1163+131insCCAA
ENST00000265641.9:c.1163+130_1163+131insCCAA	ENSP00000265641.4:n.1163+130_1163+131insCCAA
ENST00000376618.6:c.1163+130_1163+131insCCAA	ENSP00000365803.2:n.1163+130_1163+131insCCAA
ENST00000539743.5:c.1163+130_1163+131insCCAA	ENSP00000446108.1:n.1163+130_1163+131insCCAA
ENST00000540367.5:c.1163+130_1163+131insCCAA	ENSP00000439084.1:n.1163+130_1163+131insCCAA
NM_001031847.2:c.1163+130_1163+131insCCAA	NP_001027017.1:n.1163+130_1163+131insCCAA
NM_001876.3:c.1163+130_1163+131insCCAA	NP_001867.2:n.1163+130_1163+131insCCAA
XM_005273762.1:c.1259+130_1259+131insCCAA	XP_005273819.1:n.1259+130_1259+131insCCAA
XM_005273763.1:c.1259+130_1259+131insCCAA	XP_005273820.1:n.1259+130_1259+131insCCAA
XM_005273762.3:c.1259+130_1259+131insCCAA	XP_005273819.1:n.1259+130_1259+131insCCAA
XM_017017220.1:c.1163+130_1163+131insCCAA	XP_016872709.1:n.1163+130_1163+131insCCAA
NM_001876.4:c.1163+130_1163+131insCCAA MANE Select	NP_001867.2:n.1163+130_1163+131insCCAA
NM_001031847.3:c.1163+130_1163+131insCCAA	NP_001027017.1:n.1163+130_1163+131insCCAA