Canonical Allele Identifier: CA16040768
Gene: CPT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 371712
dbSNP Id: rs1057517477

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53211219_53211222del , CM000663.2:g.53211219_53211222del GRCh38
NC_000001.10:g.53676891_53676894del , CM000663.1:g.53676891_53676894del GRCh37
NC_000001.9:g.53449479_53449482del NCBI36
NG_008035.1:g.19791_19794del

Transcript Alleles

HGVS Amino-acid change
ENST00000371486.4:c.1545_1548del MANE Select ENSP00000360541.3:p.Phe516SerfsTer15
ENST00000635862.1:c.1545_1548del ENSP00000490867.1:p.Phe516SerfsTer?
ENST00000635888.1:c.*1531_*1534del ENSP00000490042.1:n.*1531_*1534del
ENST00000636239.1:c.*1192_*1195del ENSP00000490066.1:n.*1192_*1195del
ENST00000636867.1:c.1545_1548del ENSP00000489631.1:p.Phe516SerfsTer?
ENST00000636891.1:c.1545_1548del ENSP00000490399.1:p.Phe516SerfsTer15
ENST00000636935.1:c.341-2045_341-2042del ENSP00000489757.1:n.341-2045_341-2042del
ENST00000637252.1:c.1545_1548del ENSP00000490492.1:p.Phe516SerfsTer15
ENST00000637726.1:n.3745_3748del
ENST00000638135.1:c.*1192_*1195del ENSP00000489756.1:n.*1192_*1195del
ENST00000371486.3:c.1545_1548del ENSP00000360541.3:p.Phe516SerfsTer15
NM_000098.2:c.1545_1548del NP_000089.1:p.Phe516SerfsTer15
XM_005270484.1:c.1545_1548del XP_005270541.1:p.Phe516SerfsTer?
NM_001330589.1:c.1545_1548del NP_001317518.1:p.Phe516SerfsTer?
NM_000098.3:c.1545_1548del MANE Select NP_000089.1:p.Phe516SerfsTer15
NM_001330589.2:c.1545_1548del NP_001317518.1:p.Phe516SerfsTer?