Canonical Allele Identifier: CA2697552431

Gene: CPT2

Linked Data

• ClinVar Variation Id: 2727637
• ClinVar RCV Id: RCV003581239

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210654_53210656delinsATC , CM000663.2:g.53210654_53210656delinsATC	GRCh38
NC_000001.10:g.53676326_53676328delinsATC , CM000663.1:g.53676326_53676328delinsATC	GRCh37
NC_000001.9:g.53448914_53448916delinsATC	NCBI36
NG_008035.1:g.19226_19228delinsATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.980_982delinsATC MANE Select	ENSP00000360541.3:p.Leu327_Asp328delinsHisHis
ENST00000635862.1:c.980_982delinsATC	ENSP00000490867.1:p.Leu327_Asp328delinsHisHis
ENST00000635888.1:c.*966_*968delinsATC	ENSP00000490042.1:n.*966_*968delinsATC
ENST00000636239.1:c.*627_*629delinsATC	ENSP00000490066.1:n.*627_*629delinsATC
ENST00000636867.1:c.980_982delinsATC	ENSP00000489631.1:p.Leu327_Asp328delinsHisHis
ENST00000636891.1:c.980_982delinsATC	ENSP00000490399.1:p.Leu327_Asp328delinsHisHis
ENST00000636935.1:c.341-2610_341-2608delinsATC	ENSP00000489757.1:n.341-2610_341-2608delinsATC
ENST00000637252.1:c.980_982delinsATC	ENSP00000490492.1:p.Leu327_Asp328delinsHisHis
ENST00000637726.1:n.3180_3182delinsATC
ENST00000638135.1:c.*627_*629delinsATC	ENSP00000489756.1:n.*627_*629delinsATC
ENST00000371486.3:c.980_982delinsATC	ENSP00000360541.3:p.Leu327_Asp328delinsHisHis
NM_000098.2:c.980_982delinsATC	NP_000089.1:p.Leu327_Asp328delinsHisHis
XM_005270484.1:c.980_982delinsATC	XP_005270541.1:p.Leu327_Asp328delinsHisHis
NM_001330589.1:c.980_982delinsATC	NP_001317518.1:p.Leu327_Asp328delinsHisHis
NM_000098.3:c.980_982delinsATC MANE Select	NP_000089.1:p.Leu327_Asp328delinsHisHis
NM_001330589.2:c.980_982delinsATC	NP_001317518.1:p.Leu327_Asp328delinsHisHis