Canonical Allele Identifier: CA1167215316
Gene: CPT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53210820_53210821delinsAT , CM000663.2:g.53210820_53210821delinsAT GRCh38
NC_000001.10:g.53676492_53676493delinsAT , CM000663.1:g.53676492_53676493delinsAT GRCh37
NC_000001.9:g.53449080_53449081delinsAT NCBI36
NG_008035.1:g.19392_19393delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.4:c.1146_1147delinsAT MANE Select ENSP00000360541.3:p.Arg382=
ENST00000635862.1:c.1146_1147delinsAT ENSP00000490867.1:p.Arg382=
ENST00000635888.1:c.*1132_*1133delinsAT ENSP00000490042.1:n.*1132_*1133delinsAT
ENST00000636239.1:c.*793_*794delinsAT ENSP00000490066.1:n.*793_*794delinsAT
ENST00000636867.1:c.1146_1147delinsAT ENSP00000489631.1:p.Arg382=
ENST00000636891.1:c.1146_1147delinsAT ENSP00000490399.1:p.Arg382=
ENST00000636935.1:c.341-2444_341-2443delinsAT ENSP00000489757.1:n.341-2444_341-2443delinsAT
ENST00000637252.1:c.1146_1147delinsAT ENSP00000490492.1:p.Arg382=
ENST00000637726.1:n.3346_3347delinsAT
ENST00000638135.1:c.*793_*794delinsAT ENSP00000489756.1:n.*793_*794delinsAT
ENST00000371486.3:c.1146_1147delinsAT ENSP00000360541.3:p.Arg382=
NM_000098.2:c.1146_1147delinsAT NP_000089.1:p.Arg382=
XM_005270484.1:c.1146_1147delinsAT XP_005270541.1:p.Arg382=
NM_001330589.1:c.1146_1147delinsAT NP_001317518.1:p.Arg382=
NM_000098.3:c.1146_1147delinsAT MANE Select NP_000089.1:p.Arg382=
NM_001330589.2:c.1146_1147delinsAT NP_001317518.1:p.Arg382=