Canonical Allele Identifier: CA1167215156

Gene: CPT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210398_53210399delinsCA , CM000663.2:g.53210398_53210399delinsCA	GRCh38
NC_000001.10:g.53676070_53676071delinsCA , CM000663.1:g.53676070_53676071delinsCA	GRCh37
NC_000001.9:g.53448658_53448659delinsCA	NCBI36
NG_008035.1:g.18970_18971delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.724_725delinsCA MANE Select	ENSP00000360541.3:p.His242=
ENST00000635862.1:c.724_725delinsCA	ENSP00000490867.1:p.His242=
ENST00000635888.1:c.*710_*711delinsCA	ENSP00000490042.1:n.*710_*711delinsCA
ENST00000636239.1:c.*371_*372delinsCA	ENSP00000490066.1:n.*371_*372delinsCA
ENST00000636867.1:c.724_725delinsCA	ENSP00000489631.1:p.His242=
ENST00000636891.1:c.724_725delinsCA	ENSP00000490399.1:p.His242=
ENST00000636935.1:c.341-2866_341-2865delinsCA	ENSP00000489757.1:n.341-2866_341-2865delinsCA
ENST00000637252.1:c.724_725delinsCA	ENSP00000490492.1:p.His242=
ENST00000637726.1:n.2924_2925delinsCA
ENST00000638135.1:c.*371_*372delinsCA	ENSP00000489756.1:n.*371_*372delinsCA
ENST00000371486.3:c.724_725delinsCA	ENSP00000360541.3:p.His242=
NM_000098.2:c.724_725delinsCA	NP_000089.1:p.His242=
XM_005270484.1:c.724_725delinsCA	XP_005270541.1:p.His242=
NM_001330589.1:c.724_725delinsCA	NP_001317518.1:p.His242=
NM_000098.3:c.724_725delinsCA MANE Select	NP_000089.1:p.His242=
NM_001330589.2:c.724_725delinsCA	NP_001317518.1:p.His242=