Canonical Allele Identifier: CA1167215370

Gene: CPT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210994_53210998delinsCCTCA , CM000663.2:g.53210994_53210998delinsCCTCA	GRCh38
NC_000001.10:g.53676666_53676670delinsCCTCA , CM000663.1:g.53676666_53676670delinsCCTCA	GRCh37
NC_000001.9:g.53449254_53449258delinsCCTCA	NCBI36
NG_008035.1:g.19566_19570delinsCCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1320_1324delinsCCTCA MANE Select	ENSP00000360541.3:p.Thr440=
ENST00000635862.1:c.1320_1324delinsCCTCA	ENSP00000490867.1:p.Thr440=
ENST00000635888.1:c.*1306_*1310delinsCCTCA	ENSP00000490042.1:n.*1306_*1310delinsCCTCA
ENST00000636239.1:c.*967_*971delinsCCTCA	ENSP00000490066.1:n.*967_*971delinsCCTCA
ENST00000636867.1:c.1320_1324delinsCCTCA	ENSP00000489631.1:p.Thr440=
ENST00000636891.1:c.1320_1324delinsCCTCA	ENSP00000490399.1:p.Thr440=
ENST00000636935.1:c.341-2270_341-2266delinsCCTCA	ENSP00000489757.1:n.341-2270_341-2266delinsCCTCA
ENST00000637252.1:c.1320_1324delinsCCTCA	ENSP00000490492.1:p.Thr440=
ENST00000637726.1:n.3520_3524delinsCCTCA
ENST00000638135.1:c.*967_*971delinsCCTCA	ENSP00000489756.1:n.*967_*971delinsCCTCA
ENST00000371486.3:c.1320_1324delinsCCTCA	ENSP00000360541.3:p.Thr440=
NM_000098.2:c.1320_1324delinsCCTCA	NP_000089.1:p.Thr440=
XM_005270484.1:c.1320_1324delinsCCTCA	XP_005270541.1:p.Thr440=
NM_001330589.1:c.1320_1324delinsCCTCA	NP_001317518.1:p.Thr440=
NM_000098.3:c.1320_1324delinsCCTCA MANE Select	NP_000089.1:p.Thr440=
NM_001330589.2:c.1320_1324delinsCCTCA	NP_001317518.1:p.Thr440=