Canonical Allele Identifier: CA859002

Gene: CPT2

Linked Data

• ClinVar Variation Id: 1685671
• ClinVar RCV Id: RCV002249838
• dbSNP Id: rs772240606
• ExAC: 1:53675879 TGAACCC / T
• gnomAD v2: 1-53675879-TGAACCC-T
• gnomAD v3: 1-53210207-TGAACCC-T
• gnomAD v4: 1-53210207-TGAACCC-T
• MyVariant Identifiers: chr1:g.53675880_53675885del (hg19) ; chr1:g.53210208_53210213del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210208_53210213del , CM000663.2:g.53210208_53210213del	GRCh38
NC_000001.10:g.53675880_53675885del , CM000663.1:g.53675880_53675885del	GRCh37
NC_000001.9:g.53448468_53448473del	NCBI36
NG_008035.1:g.18780_18785del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.534_539del MANE Select	ENSP00000360541.3:p.Leu178_Pro180delinsPhe
ENST00000635862.1:c.534_539del	ENSP00000490867.1:p.Leu178_Pro180delinsPhe
ENST00000635888.1:c.*520_*525del	ENSP00000490042.1:n.*520_*525del
ENST00000636239.1:c.*181_*186del	ENSP00000490066.1:n.*181_*186del
ENST00000636867.1:c.534_539del	ENSP00000489631.1:p.Leu178_Pro180delinsPhe
ENST00000636891.1:c.534_539del	ENSP00000490399.1:p.Leu178_Pro180delinsPhe
ENST00000636935.1:c.341-3056_341-3051del	ENSP00000489757.1:n.341-3056_341-3051del
ENST00000637252.1:c.534_539del	ENSP00000490492.1:p.Leu178_Pro180delinsPhe
ENST00000637726.1:n.2734_2739del
ENST00000638135.1:c.*181_*186del	ENSP00000489756.1:n.*181_*186del
ENST00000371486.3:c.534_539del	ENSP00000360541.3:p.Leu178_Pro180delinsPhe
NM_000098.2:c.534_539del	NP_000089.1:p.Leu178_Pro180delinsPhe
XM_005270484.1:c.534_539del	XP_005270541.1:p.Leu178_Pro180delinsPhe
NM_001330589.1:c.534_539del	NP_001317518.1:p.Leu178_Pro180delinsPhe
NM_000098.3:c.534_539del MANE Select	NP_000089.1:p.Leu178_Pro180delinsPhe
NM_001330589.2:c.534_539del	NP_001317518.1:p.Leu178_Pro180delinsPhe