Canonical Allele Identifier: CA522907729

Gene: CPT2

Linked Data

• dbSNP Id: rs1557711912
• gnomAD v2: 1-53662582-TGCCGCGTTCTCGCC-T
• gnomAD v4: 1-53196910-TGCCGCGTTCTCGCC-T
• MyVariant Identifiers: chr1:g.53662583_53662596del (hg19) ; chr1:g.53196911_53196924del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53196916_53196929del , CM000663.2:g.53196916_53196929del	GRCh38
NC_000001.10:g.53662588_53662601del , CM000663.1:g.53662588_53662601del	GRCh37
NC_000001.9:g.53435176_53435189del	NCBI36
NG_008035.1:g.5488_5501del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371486.4:c.-28_-15del MANE Select	ENSP00000360541.3:n.-28_-15del
ENST00000468572.2:n.58_71del
ENST00000635862.1:c.-28_-15del	ENSP00000490867.1:n.-28_-15del
ENST00000635888.1:c.-28_-15del	ENSP00000490042.1:n.-28_-15del
ENST00000636239.1:c.-28_-15del	ENSP00000490066.1:n.-28_-15del
ENST00000636867.1:c.-28_-15del	ENSP00000489631.1:n.-28_-15del
ENST00000636891.1:c.-28_-15del	ENSP00000490399.1:n.-28_-15del
ENST00000636935.1:c.-28_-15del	ENSP00000489757.1:n.-28_-15del
ENST00000637252.1:c.-28_-15del	ENSP00000490492.1:n.-28_-15del
ENST00000638135.1:c.-28_-15del	ENSP00000489756.1:n.-28_-15del
ENST00000371486.3:c.-28_-15del	ENSP00000360541.3:n.-28_-15del
ENST00000468572.1:n.58_71del
NM_000098.2:c.-28_-15del	NP_000089.1:n.-28_-15del
XM_005270484.1:c.-28_-15del	XP_005270541.1:n.-28_-15del
NM_001330589.1:c.-28_-15del	NP_001317518.1:n.-28_-15del
NM_000098.3:c.-28_-15del MANE Select	NP_000089.1:n.-28_-15del
NM_001330589.2:c.-28_-15del	NP_001317518.1:n.-28_-15del