Canonical Allele Identifier: CA658821045
Gene: CPT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 556806
dbSNP Id: rs1553168847

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196980_53196982del , CM000663.2:g.53196980_53196982del GRCh38
NC_000001.10:g.53662652_53662654del , CM000663.1:g.53662652_53662654del GRCh37
NC_000001.9:g.53435240_53435242del NCBI36
NG_008035.1:g.5552_5554del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.4:c.37_39del MANE Select ENSP00000360541.3:p.Gly13del
ENST00000468572.2:n.122_124del
ENST00000635862.1:c.37_39del ENSP00000490867.1:p.Gly13del
ENST00000635888.1:c.37_39del ENSP00000490042.1:p.Gly13del
ENST00000636239.1:c.37_39del ENSP00000490066.1:p.Gly13del
ENST00000636867.1:c.37_39del ENSP00000489631.1:p.Gly13del
ENST00000636891.1:c.37_39del ENSP00000490399.1:p.Gly13del
ENST00000636935.1:c.37_39del ENSP00000489757.1:p.Gly13del
ENST00000637252.1:c.37_39del ENSP00000490492.1:p.Gly13del
ENST00000638135.1:c.37_39del ENSP00000489756.1:p.Gly13del
ENST00000371486.3:c.37_39del ENSP00000360541.3:p.Gly13del
ENST00000468572.1:n.122_124del
NM_000098.2:c.37_39del NP_000089.1:p.Gly13del
XM_005270484.1:c.37_39del XP_005270541.1:p.Gly13del
NM_001330589.1:c.37_39del NP_001317518.1:p.Gly13del
NM_000098.3:c.37_39del MANE Select NP_000089.1:p.Gly13del
NM_001330589.2:c.37_39del NP_001317518.1:p.Gly13del