Canonical Allele Identifier: CA1167215205
Gene: CPT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53210521_53210522delinsGC , CM000663.2:g.53210521_53210522delinsGC GRCh38
NC_000001.10:g.53676193_53676194delinsGC , CM000663.1:g.53676193_53676194delinsGC GRCh37
NC_000001.9:g.53448781_53448782delinsGC NCBI36
NG_008035.1:g.19093_19094delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.4:c.847_848delinsGC MANE Select ENSP00000360541.3:p.Ala283=
ENST00000635862.1:c.847_848delinsGC ENSP00000490867.1:p.Ala283=
ENST00000635888.1:c.*833_*834delinsGC ENSP00000490042.1:n.*833_*834delinsGC
ENST00000636239.1:c.*494_*495delinsGC ENSP00000490066.1:n.*494_*495delinsGC
ENST00000636867.1:c.847_848delinsGC ENSP00000489631.1:p.Ala283=
ENST00000636891.1:c.847_848delinsGC ENSP00000490399.1:p.Ala283=
ENST00000636935.1:c.341-2743_341-2742delinsGC ENSP00000489757.1:n.341-2743_341-2742delinsGC
ENST00000637252.1:c.847_848delinsGC ENSP00000490492.1:p.Ala283=
ENST00000637726.1:n.3047_3048delinsGC
ENST00000638135.1:c.*494_*495delinsGC ENSP00000489756.1:n.*494_*495delinsGC
ENST00000371486.3:c.847_848delinsGC ENSP00000360541.3:p.Ala283=
NM_000098.2:c.847_848delinsGC NP_000089.1:p.Ala283=
XM_005270484.1:c.847_848delinsGC XP_005270541.1:p.Ala283=
NM_001330589.1:c.847_848delinsGC NP_001317518.1:p.Ala283=
NM_000098.3:c.847_848delinsGC MANE Select NP_000089.1:p.Ala283=
NM_001330589.2:c.847_848delinsGC NP_001317518.1:p.Ala283=