Canonical Allele Identifier: CA913075691

Gene: CPT2

Linked Data

• MyVariant Identifiers: chr1:g.53676907_53676908del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53211235_53211236del , CM000663.2:g.53211235_53211236del	GRCh38
NC_000001.10:g.53676907_53676908del , CM000663.1:g.53676907_53676908del	GRCh37
NC_000001.9:g.53449495_53449496del	NCBI36
NG_008035.1:g.19807_19808del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1561_1562del MANE Select	ENSP00000360541.3:p.Ser521GlnfsTer6
ENST00000635862.1:c.1561_1562del	ENSP00000490867.1:p.Ser521GlnfsTer21
ENST00000635888.1:c.*1547_*1548del	ENSP00000490042.1:n.*1547_*1548del
ENST00000636239.1:c.*1208_*1209del	ENSP00000490066.1:n.*1208_*1209del
ENST00000636867.1:c.1561_1562del	ENSP00000489631.1:p.Ser521GlnfsTer9
ENST00000636891.1:c.1561_1562del	ENSP00000490399.1:p.Ser521GlnfsTer6
ENST00000636935.1:c.341-2029_341-2028del	ENSP00000489757.1:n.341-2029_341-2028del
ENST00000637252.1:c.1561_1562del	ENSP00000490492.1:p.Ser521GlnfsTer6
ENST00000637726.1:n.3761_3762del
ENST00000638135.1:c.*1208_*1209del	ENSP00000489756.1:n.*1208_*1209del
ENST00000371486.3:c.1561_1562del	ENSP00000360541.3:p.Ser521GlnfsTer6
NM_000098.2:c.1561_1562del	NP_000089.1:p.Ser521GlnfsTer6
XM_005270484.1:c.1561_1562del	XP_005270541.1:p.Ser521GlnfsTer9
NM_001330589.1:c.1561_1562del	NP_001317518.1:p.Ser521GlnfsTer9
NM_000098.3:c.1561_1562del MANE Select	NP_000089.1:p.Ser521GlnfsTer6
NM_001330589.2:c.1561_1562del	NP_001317518.1:p.Ser521GlnfsTer9