Canonical Allele Identifier: CA1167215231
Gene: CPT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53210584_53210587delinsCAGA , CM000663.2:g.53210584_53210587delinsCAGA GRCh38
NC_000001.10:g.53676256_53676259delinsCAGA , CM000663.1:g.53676256_53676259delinsCAGA GRCh37
NC_000001.9:g.53448844_53448847delinsCAGA NCBI36
NG_008035.1:g.19156_19159delinsCAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.4:c.910_913delinsCAGA MANE Select ENSP00000360541.3:p.Gln304=
ENST00000635862.1:c.910_913delinsCAGA ENSP00000490867.1:p.Gln304=
ENST00000635888.1:c.*896_*899delinsCAGA ENSP00000490042.1:n.*896_*899delinsCAGA
ENST00000636239.1:c.*557_*560delinsCAGA ENSP00000490066.1:n.*557_*560delinsCAGA
ENST00000636867.1:c.910_913delinsCAGA ENSP00000489631.1:p.Gln304=
ENST00000636891.1:c.910_913delinsCAGA ENSP00000490399.1:p.Gln304=
ENST00000636935.1:c.341-2680_341-2677delinsCAGA ENSP00000489757.1:n.341-2680_341-2677delinsCAGA
ENST00000637252.1:c.910_913delinsCAGA ENSP00000490492.1:p.Gln304=
ENST00000637726.1:n.3110_3113delinsCAGA
ENST00000638135.1:c.*557_*560delinsCAGA ENSP00000489756.1:n.*557_*560delinsCAGA
ENST00000371486.3:c.910_913delinsCAGA ENSP00000360541.3:p.Gln304=
NM_000098.2:c.910_913delinsCAGA NP_000089.1:p.Gln304=
XM_005270484.1:c.910_913delinsCAGA XP_005270541.1:p.Gln304=
NM_001330589.1:c.910_913delinsCAGA NP_001317518.1:p.Gln304=
NM_000098.3:c.910_913delinsCAGA MANE Select NP_000089.1:p.Gln304=
NM_001330589.2:c.910_913delinsCAGA NP_001317518.1:p.Gln304=