Canonical Allele Identifier: CA1167215102

Gene: CPT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210264_53210266delinsCCT , CM000663.2:g.53210264_53210266delinsCCT	GRCh38
NC_000001.10:g.53675936_53675938delinsCCT , CM000663.1:g.53675936_53675938delinsCCT	GRCh37
NC_000001.9:g.53448524_53448526delinsCCT	NCBI36
NG_008035.1:g.18836_18838delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.590_592delinsCCT MANE Select	ENSP00000360541.3:p.Ser197=
ENST00000635862.1:c.590_592delinsCCT	ENSP00000490867.1:p.Ser197=
ENST00000635888.1:c.*576_*578delinsCCT	ENSP00000490042.1:n.*576_*578delinsCCT
ENST00000636239.1:c.*237_*239delinsCCT	ENSP00000490066.1:n.*237_*239delinsCCT
ENST00000636867.1:c.590_592delinsCCT	ENSP00000489631.1:p.Ser197=
ENST00000636891.1:c.590_592delinsCCT	ENSP00000490399.1:p.Ser197=
ENST00000636935.1:c.341-3000_341-2998delinsCCT	ENSP00000489757.1:n.341-3000_341-2998delinsCCT
ENST00000637252.1:c.590_592delinsCCT	ENSP00000490492.1:p.Ser197=
ENST00000637726.1:n.2790_2792delinsCCT
ENST00000638135.1:c.*237_*239delinsCCT	ENSP00000489756.1:n.*237_*239delinsCCT
ENST00000371486.3:c.590_592delinsCCT	ENSP00000360541.3:p.Ser197=
NM_000098.2:c.590_592delinsCCT	NP_000089.1:p.Ser197=
XM_005270484.1:c.590_592delinsCCT	XP_005270541.1:p.Ser197=
NM_001330589.1:c.590_592delinsCCT	NP_001317518.1:p.Ser197=
NM_000098.3:c.590_592delinsCCT MANE Select	NP_000089.1:p.Ser197=
NM_001330589.2:c.590_592delinsCCT	NP_001317518.1:p.Ser197=