Canonical Allele Identifier: CA1167215484
Gene: CPT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53211265_53211272delinsATGATGGT , CM000663.2:g.53211265_53211272delinsATGATGGT GRCh38
NC_000001.10:g.53676937_53676944delinsATGATGGT , CM000663.1:g.53676937_53676944delinsATGATGGT GRCh37
NC_000001.9:g.53449525_53449532delinsATGATGGT NCBI36
NG_008035.1:g.19837_19844delinsATGATGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.4:c.1591_1598delinsATGATGGT MANE Select ENSP00000360541.3:p.Met531=
ENST00000635862.1:c.1576+15_1576+22delinsATGATGGT ENSP00000490867.1:n.1576+15_1576+22delinsATGATGGT
ENST00000635888.1:c.*1577_*1584delinsATGATGGT ENSP00000490042.1:n.*1577_*1584delinsATGATGGT
ENST00000636239.1:c.*1238_*1245delinsATGATGGT ENSP00000490066.1:n.*1238_*1245delinsATGATGGT
ENST00000636867.1:c.1576+15_1576+22delinsATGATGGT ENSP00000489631.1:n.1576+15_1576+22delinsATGATGGT
ENST00000636891.1:c.1591_1598delinsATGATGGT ENSP00000490399.1:p.Met531=
ENST00000636935.1:c.341-1999_341-1992delinsATGATGGT ENSP00000489757.1:n.341-1999_341-1992delinsATGATGGT
ENST00000637252.1:c.1591_1598delinsATGATGGT ENSP00000490492.1:p.Met531=
ENST00000637726.1:n.3791_3798delinsATGATGGT
ENST00000638135.1:c.*1238_*1245delinsATGATGGT ENSP00000489756.1:n.*1238_*1245delinsATGATGGT
ENST00000371486.3:c.1591_1598delinsATGATGGT ENSP00000360541.3:p.Met531=
NM_000098.2:c.1591_1598delinsATGATGGT NP_000089.1:p.Met531=
XM_005270484.1:c.1576+15_1576+22delinsATGATGGT XP_005270541.1:n.1576+15_1576+22delinsATGATGGT
NM_001330589.1:c.1576+15_1576+22delinsATGATGGT NP_001317518.1:n.1576+15_1576+22delinsATGATGGT
NM_000098.3:c.1591_1598delinsATGATGGT MANE Select NP_000089.1:p.Met531=
NM_001330589.2:c.1576+15_1576+22delinsATGATGGT NP_001317518.1:n.1576+15_1576+22delinsATGATGGT