Canonical Allele Identifier: CA2645708999

Gene: CPT2

Linked Data

• gnomAD v4: 1-53211118-A-ACCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53211119_53211120insCCCC , CM000663.2:g.53211119_53211120insCCCC	GRCh38
NC_000001.10:g.53676791_53676792insCCCC , CM000663.1:g.53676791_53676792insCCCC	GRCh37
NC_000001.9:g.53449379_53449380insCCCC	NCBI36
NG_008035.1:g.19691_19692insCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1445_1446insCCCC MANE Select	ENSP00000360541.3:p.Val483ProfsTer9
ENST00000635862.1:c.1445_1446insCCCC	ENSP00000490867.1:p.Val483ProfsTer9
ENST00000635888.1:c.*1431_*1432insCCCC	ENSP00000490042.1:n.*1431_*1432insCCCC
ENST00000636239.1:c.*1092_*1093insCCCC	ENSP00000490066.1:n.*1092_*1093insCCCC
ENST00000636867.1:c.1445_1446insCCCC	ENSP00000489631.1:p.Val483ProfsTer9
ENST00000636891.1:c.1445_1446insCCCC	ENSP00000490399.1:p.Val483ProfsTer9
ENST00000636935.1:c.341-2145_341-2144insCCCC	ENSP00000489757.1:n.341-2145_341-2144insCCCC
ENST00000637252.1:c.1445_1446insCCCC	ENSP00000490492.1:p.Val483ProfsTer9
ENST00000637726.1:n.3645_3646insCCCC
ENST00000638135.1:c.*1092_*1093insCCCC	ENSP00000489756.1:n.*1092_*1093insCCCC
ENST00000371486.3:c.1445_1446insCCCC	ENSP00000360541.3:p.Val483ProfsTer9
NM_000098.2:c.1445_1446insCCCC	NP_000089.1:p.Val483ProfsTer9
XM_005270484.1:c.1445_1446insCCCC	XP_005270541.1:p.Val483ProfsTer9
NM_001330589.1:c.1445_1446insCCCC	NP_001317518.1:p.Val483ProfsTer9
NM_000098.3:c.1445_1446insCCCC MANE Select	NP_000089.1:p.Val483ProfsTer9
NM_001330589.2:c.1445_1446insCCCC	NP_001317518.1:p.Val483ProfsTer9