Canonical Allele Identifier: CA658821059

Gene: CPT2

Linked Data

• ClinVar Variation Id: 558286
• ClinVar RCV Id: RCV000674530
• dbSNP Id: rs1553169726
• MyVariant Identifiers: chr1:g.53210720_53210721del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210720_53210721del , CM000663.2:g.53210720_53210721del	GRCh38
NC_000001.10:g.53676392_53676393del , CM000663.1:g.53676392_53676393del	GRCh37
NC_000001.9:g.53448980_53448981del	NCBI36
NG_008035.1:g.19292_19293del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1046_1047del MANE Select	ENSP00000360541.3:p.Asn349ThrfsTer4
ENST00000635862.1:c.1046_1047del	ENSP00000490867.1:p.Asn349ThrfsTer4
ENST00000635888.1:c.*1032_*1033del	ENSP00000490042.1:n.*1032_*1033del
ENST00000636239.1:c.*693_*694del	ENSP00000490066.1:n.*693_*694del
ENST00000636867.1:c.1046_1047del	ENSP00000489631.1:p.Asn349ThrfsTer4
ENST00000636891.1:c.1046_1047del	ENSP00000490399.1:p.Asn349ThrfsTer4
ENST00000636935.1:c.341-2544_341-2543del	ENSP00000489757.1:n.341-2544_341-2543del
ENST00000637252.1:c.1046_1047del	ENSP00000490492.1:p.Asn349ThrfsTer4
ENST00000637726.1:n.3246_3247del
ENST00000638135.1:c.*693_*694del	ENSP00000489756.1:n.*693_*694del
ENST00000371486.3:c.1046_1047del	ENSP00000360541.3:p.Asn349ThrfsTer4
NM_000098.2:c.1046_1047del	NP_000089.1:p.Asn349ThrfsTer4
XM_005270484.1:c.1046_1047del	XP_005270541.1:p.Asn349ThrfsTer4
NM_001330589.1:c.1046_1047del	NP_001317518.1:p.Asn349ThrfsTer4
NM_000098.3:c.1046_1047del MANE Select	NP_000089.1:p.Asn349ThrfsTer4
NM_001330589.2:c.1046_1047del	NP_001317518.1:p.Asn349ThrfsTer4