Canonical Allele Identifier: CA1167215165

Gene: CPT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210420_53210422delinsGAA , CM000663.2:g.53210420_53210422delinsGAA	GRCh38
NC_000001.10:g.53676092_53676094delinsGAA , CM000663.1:g.53676092_53676094delinsGAA	GRCh37
NC_000001.9:g.53448680_53448682delinsGAA	NCBI36
NG_008035.1:g.18992_18994delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.746_748delinsGAA MANE Select	ENSP00000360541.3:p.Gly249=
ENST00000635862.1:c.746_748delinsGAA	ENSP00000490867.1:p.Gly249=
ENST00000635888.1:c.*732_*734delinsGAA	ENSP00000490042.1:n.*732_*734delinsGAA
ENST00000636239.1:c.*393_*395delinsGAA	ENSP00000490066.1:n.*393_*395delinsGAA
ENST00000636867.1:c.746_748delinsGAA	ENSP00000489631.1:p.Gly249=
ENST00000636891.1:c.746_748delinsGAA	ENSP00000490399.1:p.Gly249=
ENST00000636935.1:c.341-2844_341-2842delinsGAA	ENSP00000489757.1:n.341-2844_341-2842delinsGAA
ENST00000637252.1:c.746_748delinsGAA	ENSP00000490492.1:p.Gly249=
ENST00000637726.1:n.2946_2948delinsGAA
ENST00000638135.1:c.*393_*395delinsGAA	ENSP00000489756.1:n.*393_*395delinsGAA
ENST00000371486.3:c.746_748delinsGAA	ENSP00000360541.3:p.Gly249=
NM_000098.2:c.746_748delinsGAA	NP_000089.1:p.Gly249=
XM_005270484.1:c.746_748delinsGAA	XP_005270541.1:p.Gly249=
NM_001330589.1:c.746_748delinsGAA	NP_001317518.1:p.Gly249=
NM_000098.3:c.746_748delinsGAA MANE Select	NP_000089.1:p.Gly249=
NM_001330589.2:c.746_748delinsGAA	NP_001317518.1:p.Gly249=