Canonical Allele Identifier: CA22626207

Gene: CPT2

Linked Data

• dbSNP Id: rs773273244
• gnomAD v2: 1-53662495-CGGA-C
• gnomAD v3: 1-53196823-CGGA-C
• gnomAD v4: 1-53196823-CGGA-C
• MyVariant Identifiers: chr1:g.53662496_53662498del (hg19) ; chr1:g.53196824_53196826del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53196825_53196827del , CM000663.2:g.53196825_53196827del	GRCh38
NC_000001.10:g.53662497_53662499del , CM000663.1:g.53662497_53662499del	GRCh37
NC_000001.9:g.53435085_53435087del	NCBI36
NG_008035.1:g.5397_5399del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.-119_-117del MANE Select	ENSP00000360541.3:n.-119_-117del
ENST00000635862.1:c.-119_-117del	ENSP00000490867.1:n.-119_-117del
ENST00000635888.1:c.-119_-117del	ENSP00000490042.1:n.-119_-117del
ENST00000636239.1:c.-119_-117del	ENSP00000490066.1:n.-119_-117del
ENST00000636867.1:c.-119_-117del	ENSP00000489631.1:n.-119_-117del
ENST00000636891.1:c.-119_-117del	ENSP00000490399.1:n.-119_-117del
ENST00000636935.1:c.-119_-117del	ENSP00000489757.1:n.-119_-117del
ENST00000637252.1:c.-119_-117del	ENSP00000490492.1:n.-119_-117del
ENST00000371486.3:c.-119_-117del	ENSP00000360541.3:n.-119_-117del
NM_000098.2:c.-119_-117del	NP_000089.1:n.-119_-117del
XM_005270484.1:c.-119_-117del	XP_005270541.1:n.-119_-117del
NM_001330589.1:c.-119_-117del	NP_001317518.1:n.-119_-117del
NM_000098.3:c.-119_-117del MANE Select	NP_000089.1:n.-119_-117del
NM_001330589.2:c.-119_-117del	NP_001317518.1:n.-119_-117del