Canonical Allele Identifier: CA340394125

Gene: CPT2

Linked Data

• MyVariant Identifiers: chr1:g.53210596_53210598del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210599_53210601del , CM000663.2:g.53210599_53210601del	GRCh38
NC_000001.10:g.53676271_53676273del , CM000663.1:g.53676271_53676273del	GRCh37
NC_000001.9:g.53448859_53448861del	NCBI36
NG_008035.1:g.19171_19173del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.925_927del MANE Select	ENSP00000360541.3:p.Ser309del
ENST00000635862.1:c.925_927del	ENSP00000490867.1:p.Ser309del
ENST00000635888.1:c.*911_*913del	ENSP00000490042.1:n.*911_*913del
ENST00000636239.1:c.*572_*574del	ENSP00000490066.1:n.*572_*574del
ENST00000636867.1:c.925_927del	ENSP00000489631.1:p.Ser309del
ENST00000636891.1:c.925_927del	ENSP00000490399.1:p.Ser309del
ENST00000636935.1:c.341-2665_341-2663del	ENSP00000489757.1:n.341-2665_341-2663del
ENST00000637252.1:c.925_927del	ENSP00000490492.1:p.Ser309del
ENST00000637726.1:n.3125_3127del
ENST00000638135.1:c.*572_*574del	ENSP00000489756.1:n.*572_*574del
ENST00000371486.3:c.925_927del	ENSP00000360541.3:p.Ser309del
NM_000098.2:c.925_927del	NP_000089.1:p.Ser309del
XM_005270484.1:c.925_927del	XP_005270541.1:p.Ser309del
NM_001330589.1:c.925_927del	NP_001317518.1:p.Ser309del
NM_000098.3:c.925_927del MANE Select	NP_000089.1:p.Ser309del
NM_001330589.2:c.925_927del	NP_001317518.1:p.Ser309del