Canonical Allele Identifier: CA1167215382

Gene: CPT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53211018_53211020delinsTCA , CM000663.2:g.53211018_53211020delinsTCA	GRCh38
NC_000001.10:g.53676690_53676692delinsTCA , CM000663.1:g.53676690_53676692delinsTCA	GRCh37
NC_000001.9:g.53449278_53449280delinsTCA	NCBI36
NG_008035.1:g.19590_19592delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1344_1346delinsTCA MANE Select	ENSP00000360541.3:p.Phe448=
ENST00000635862.1:c.1344_1346delinsTCA	ENSP00000490867.1:p.Phe448=
ENST00000635888.1:c.*1330_*1332delinsTCA	ENSP00000490042.1:n.*1330_*1332delinsTCA
ENST00000636239.1:c.*991_*993delinsTCA	ENSP00000490066.1:n.*991_*993delinsTCA
ENST00000636867.1:c.1344_1346delinsTCA	ENSP00000489631.1:p.Phe448=
ENST00000636891.1:c.1344_1346delinsTCA	ENSP00000490399.1:p.Phe448=
ENST00000636935.1:c.341-2246_341-2244delinsTCA	ENSP00000489757.1:n.341-2246_341-2244delinsTCA
ENST00000637252.1:c.1344_1346delinsTCA	ENSP00000490492.1:p.Phe448=
ENST00000637726.1:n.3544_3546delinsTCA
ENST00000638135.1:c.*991_*993delinsTCA	ENSP00000489756.1:n.*991_*993delinsTCA
ENST00000371486.3:c.1344_1346delinsTCA	ENSP00000360541.3:p.Phe448=
NM_000098.2:c.1344_1346delinsTCA	NP_000089.1:p.Phe448=
XM_005270484.1:c.1344_1346delinsTCA	XP_005270541.1:p.Phe448=
NM_001330589.1:c.1344_1346delinsTCA	NP_001317518.1:p.Phe448=
NM_000098.3:c.1344_1346delinsTCA MANE Select	NP_000089.1:p.Phe448=
NM_001330589.2:c.1344_1346delinsTCA	NP_001317518.1:p.Phe448=