Canonical Allele Identifier: CA2743635543
Gene: CPT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53210693_53210707del , CM000663.2:g.53210693_53210707del GRCh38
NC_000001.10:g.53676365_53676379del , CM000663.1:g.53676365_53676379del GRCh37
NC_000001.9:g.53448953_53448967del NCBI36
NG_008035.1:g.19265_19279del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.4:c.1019_1033del MANE Select ENSP00000360541.3:p.His340_Gly345delinsArg
ENST00000635862.1:c.1019_1033del ENSP00000490867.1:p.His340_Gly345delinsArg
ENST00000635888.1:c.*1005_*1019del ENSP00000490042.1:n.*1005_*1019del
ENST00000636239.1:c.*666_*680del ENSP00000490066.1:n.*666_*680del
ENST00000636867.1:c.1019_1033del ENSP00000489631.1:p.His340_Gly345delinsArg
ENST00000636891.1:c.1019_1033del ENSP00000490399.1:p.His340_Gly345delinsArg
ENST00000636935.1:c.341-2571_341-2557del ENSP00000489757.1:n.341-2571_341-2557del
ENST00000637252.1:c.1019_1033del ENSP00000490492.1:p.His340_Gly345delinsArg
ENST00000637726.1:n.3219_3233del
ENST00000638135.1:c.*666_*680del ENSP00000489756.1:n.*666_*680del
ENST00000371486.3:c.1019_1033del ENSP00000360541.3:p.His340_Gly345delinsArg
NM_000098.2:c.1019_1033del NP_000089.1:p.His340_Gly345delinsArg
XM_005270484.1:c.1019_1033del XP_005270541.1:p.His340_Gly345delinsArg
NM_001330589.1:c.1019_1033del NP_001317518.1:p.His340_Gly345delinsArg
NM_000098.3:c.1019_1033del MANE Select NP_000089.1:p.His340_Gly345delinsArg
NM_001330589.2:c.1019_1033del NP_001317518.1:p.His340_Gly345delinsArg