Canonical Allele Identifier: CA1167215077
Gene: CPT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53210207_53210232delinsTGAACCCTGCAAAAAGTGACACTATC , CM000663.2:g.53210207_53210232delinsTGAACCCTGCAAAAAGTGACACTATC GRCh38
NC_000001.10:g.53675879_53675904delinsTGAACCCTGCAAAAAGTGACACTATC , CM000663.1:g.53675879_53675904delinsTGAACCCTGCAAAAAGTGACACTATC GRCh37
NC_000001.9:g.53448467_53448492delinsTGAACCCTGCAAAAAGTGACACTATC NCBI36
NG_008035.1:g.18779_18804delinsTGAACCCTGCAAAAAGTGACACTATC

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.4:c.533_558delinsTGAACCCTGCAAAAAGTGACACTATC MANE Select ENSP00000360541.3:p.Leu178=
ENST00000635862.1:c.533_558delinsTGAACCCTGCAAAAAGTGACACTATC ENSP00000490867.1:p.Leu178=
ENST00000635888.1:c.*519_*544delinsTGAACCCTGCAAAAAGTGACACTATC ENSP00000490042.1:n.*519_*544delinsTGAACCCTGCAAAAAGTGACACTATC...
ENST00000636239.1:c.*180_*205delinsTGAACCCTGCAAAAAGTGACACTATC ENSP00000490066.1:n.*180_*205delinsTGAACCCTGCAAAAAGTGACACTATC...
ENST00000636867.1:c.533_558delinsTGAACCCTGCAAAAAGTGACACTATC ENSP00000489631.1:p.Leu178=
ENST00000636891.1:c.533_558delinsTGAACCCTGCAAAAAGTGACACTATC ENSP00000490399.1:p.Leu178=
ENST00000636935.1:c.341-3057_341-3032delinsTGAACCCTGCAAAAAGTGACACTATC ENSP00000489757.1:n.341-3057_341-3032delinsTGAACCCTGCAAAAAGTG...
ENST00000637252.1:c.533_558delinsTGAACCCTGCAAAAAGTGACACTATC ENSP00000490492.1:p.Leu178=
ENST00000637726.1:n.2733_2758delinsTGAACCCTGCAAAAAGTGACACTATC
ENST00000638135.1:c.*180_*205delinsTGAACCCTGCAAAAAGTGACACTATC ENSP00000489756.1:n.*180_*205delinsTGAACCCTGCAAAAAGTGACACTATC...
ENST00000371486.3:c.533_558delinsTGAACCCTGCAAAAAGTGACACTATC ENSP00000360541.3:p.Leu178=
NM_000098.2:c.533_558delinsTGAACCCTGCAAAAAGTGACACTATC NP_000089.1:p.Leu178=
XM_005270484.1:c.533_558delinsTGAACCCTGCAAAAAGTGACACTATC XP_005270541.1:p.Leu178=
NM_001330589.1:c.533_558delinsTGAACCCTGCAAAAAGTGACACTATC NP_001317518.1:p.Leu178=
NM_000098.3:c.533_558delinsTGAACCCTGCAAAAAGTGACACTATC MANE Select NP_000089.1:p.Leu178=
NM_001330589.2:c.533_558delinsTGAACCCTGCAAAAAGTGACACTATC NP_001317518.1:p.Leu178=