Canonical Allele Identifier: CA1141330283
Gene: CPT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53213175_53213178delinsGGGG , CM000663.2:g.53213175_53213178delinsGGGG GRCh38
NC_000001.10:g.53678847_53678850delinsGGGG , CM000663.1:g.53678847_53678850delinsGGGG GRCh37
NC_000001.9:g.53451435_53451438delinsGGGG NCBI36
NG_008035.1:g.21747_21750delinsGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.4:c.1646-89_1646-86delinsGGGG MANE Select ENSP00000360541.3:n.1646-89_1646-86delinsGGGG
ENST00000635862.1:c.1613-89_1613-86delinsGGGG ENSP00000490867.1:n.1613-89_1613-86delinsGGGG
ENST00000635888.1:c.*1632-89_*1632-86delinsGGGG ENSP00000490042.1:n.*1632-89_*1632-86delinsGGGG
ENST00000636239.1:c.*1293-89_*1293-86delinsGGGG ENSP00000490066.1:n.*1293-89_*1293-86delinsGGGG
ENST00000636867.1:c.1577-89_1577-86delinsGGGG ENSP00000489631.1:n.1577-89_1577-86delinsGGGG
ENST00000636891.1:c.1696-89_1696-86delinsGGGG ENSP00000490399.1:n.1696-89_1696-86delinsGGGG
ENST00000636935.1:c.341-89_341-86delinsGGGG ENSP00000489757.1:n.341-89_341-86delinsGGGG
ENST00000637252.1:c.1682-89_1682-86delinsGGGG ENSP00000490492.1:n.1682-89_1682-86delinsGGGG
ENST00000638135.1:c.*1293-89_*1293-86delinsGGGG ENSP00000489756.1:n.*1293-89_*1293-86delinsGGGG
ENST00000371486.3:c.1646-89_1646-86delinsGGGG ENSP00000360541.3:n.1646-89_1646-86delinsGGGG
NM_000098.2:c.1646-89_1646-86delinsGGGG NP_000089.1:n.1646-89_1646-86delinsGGGG
XM_005270484.1:c.1577-89_1577-86delinsGGGG XP_005270541.1:n.1577-89_1577-86delinsGGGG
NM_001330589.1:c.1577-89_1577-86delinsGGGG NP_001317518.1:n.1577-89_1577-86delinsGGGG
NM_000098.3:c.1646-89_1646-86delinsGGGG MANE Select NP_000089.1:n.1646-89_1646-86delinsGGGG
NM_001330589.2:c.1577-89_1577-86delinsGGGG NP_001317518.1:n.1577-89_1577-86delinsGGGG