Canonical Allele Identifier: CA1167215210

Gene: CPT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210536_53210537delinsCT , CM000663.2:g.53210536_53210537delinsCT	GRCh38
NC_000001.10:g.53676208_53676209delinsCT , CM000663.1:g.53676208_53676209delinsCT	GRCh37
NC_000001.9:g.53448796_53448797delinsCT	NCBI36
NG_008035.1:g.19108_19109delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000371486.4:c.862_863delinsCT MANE Select	ENSP00000360541.3:p.Leu288=
ENST00000635862.1:c.862_863delinsCT	ENSP00000490867.1:p.Leu288=
ENST00000635888.1:c.*848_*849delinsCT	ENSP00000490042.1:n.*848_*849delinsCT
ENST00000636239.1:c.*509_*510delinsCT	ENSP00000490066.1:n.*509_*510delinsCT
ENST00000636867.1:c.862_863delinsCT	ENSP00000489631.1:p.Leu288=
ENST00000636891.1:c.862_863delinsCT	ENSP00000490399.1:p.Leu288=
ENST00000636935.1:c.341-2728_341-2727delinsCT	ENSP00000489757.1:n.341-2728_341-2727deli...
ENST00000637252.1:c.862_863delinsCT	ENSP00000490492.1:p.Leu288=
ENST00000637726.1:n.3062_3063delinsCT
ENST00000638135.1:c.*509_*510delinsCT	ENSP00000489756.1:n.*509_*510delinsCT
ENST00000371486.3:c.862_863delinsCT	ENSP00000360541.3:p.Leu288=
NM_000098.2:c.862_863delinsCT	NP_000089.1:p.Leu288=
XM_005270484.1:c.862_863delinsCT	XP_005270541.1:p.Leu288=
NM_001330589.1:c.862_863delinsCT	NP_001317518.1:p.Leu288=
NM_000098.3:c.862_863delinsCT MANE Select	NP_000089.1:p.Leu288=
NM_001330589.2:c.862_863delinsCT	NP_001317518.1:p.Leu288=