Canonical Allele Identifier: CA1167215269

Gene: CPT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210694_53210695delinsCA , CM000663.2:g.53210694_53210695delinsCA	GRCh38
NC_000001.10:g.53676366_53676367delinsCA , CM000663.1:g.53676366_53676367delinsCA	GRCh37
NC_000001.9:g.53448954_53448955delinsCA	NCBI36
NG_008035.1:g.19266_19267delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1020_1021delinsCA MANE Select	ENSP00000360541.3:p.His340=
ENST00000635862.1:c.1020_1021delinsCA	ENSP00000490867.1:p.His340=
ENST00000635888.1:c.*1006_*1007delinsCA	ENSP00000490042.1:n.*1006_*1007delinsCA
ENST00000636239.1:c.*667_*668delinsCA	ENSP00000490066.1:n.*667_*668delinsCA
ENST00000636867.1:c.1020_1021delinsCA	ENSP00000489631.1:p.His340=
ENST00000636891.1:c.1020_1021delinsCA	ENSP00000490399.1:p.His340=
ENST00000636935.1:c.341-2570_341-2569delinsCA	ENSP00000489757.1:n.341-2570_341-2569delinsCA
ENST00000637252.1:c.1020_1021delinsCA	ENSP00000490492.1:p.His340=
ENST00000637726.1:n.3220_3221delinsCA
ENST00000638135.1:c.*667_*668delinsCA	ENSP00000489756.1:n.*667_*668delinsCA
ENST00000371486.3:c.1020_1021delinsCA	ENSP00000360541.3:p.His340=
NM_000098.2:c.1020_1021delinsCA	NP_000089.1:p.His340=
XM_005270484.1:c.1020_1021delinsCA	XP_005270541.1:p.His340=
NM_001330589.1:c.1020_1021delinsCA	NP_001317518.1:p.His340=
NM_000098.3:c.1020_1021delinsCA MANE Select	NP_000089.1:p.His340=
NM_001330589.2:c.1020_1021delinsCA	NP_001317518.1:p.His340=