Canonical Allele Identifier: CA1167215423

Gene: CPT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53211114_53211118delinsGCAGA , CM000663.2:g.53211114_53211118delinsGCAGA	GRCh38
NC_000001.10:g.53676786_53676790delinsGCAGA , CM000663.1:g.53676786_53676790delinsGCAGA	GRCh37
NC_000001.9:g.53449374_53449378delinsGCAGA	NCBI36
NG_008035.1:g.19686_19690delinsGCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1440_1444delinsGCAGA MANE Select	ENSP00000360541.3:p.Gly480=
ENST00000635862.1:c.1440_1444delinsGCAGA	ENSP00000490867.1:p.Gly480=
ENST00000635888.1:c.*1426_*1430delinsGCAGA	ENSP00000490042.1:n.*1426_*1430delinsGCAGA
ENST00000636239.1:c.*1087_*1091delinsGCAGA	ENSP00000490066.1:n.*1087_*1091delinsGCAGA
ENST00000636867.1:c.1440_1444delinsGCAGA	ENSP00000489631.1:p.Gly480=
ENST00000636891.1:c.1440_1444delinsGCAGA	ENSP00000490399.1:p.Gly480=
ENST00000636935.1:c.341-2150_341-2146delinsGCAGA	ENSP00000489757.1:n.341-2150_341-2146delinsGCAGA
ENST00000637252.1:c.1440_1444delinsGCAGA	ENSP00000490492.1:p.Gly480=
ENST00000637726.1:n.3640_3644delinsGCAGA
ENST00000638135.1:c.*1087_*1091delinsGCAGA	ENSP00000489756.1:n.*1087_*1091delinsGCAGA
ENST00000371486.3:c.1440_1444delinsGCAGA	ENSP00000360541.3:p.Gly480=
NM_000098.2:c.1440_1444delinsGCAGA	NP_000089.1:p.Gly480=
XM_005270484.1:c.1440_1444delinsGCAGA	XP_005270541.1:p.Gly480=
NM_001330589.1:c.1440_1444delinsGCAGA	NP_001317518.1:p.Gly480=
NM_000098.3:c.1440_1444delinsGCAGA MANE Select	NP_000089.1:p.Gly480=
NM_001330589.2:c.1440_1444delinsGCAGA	NP_001317518.1:p.Gly480=