Canonical Allele Identifier: CA859223

Gene: CPT2

Linked Data

• dbSNP Id: rs769170998
• ExAC: 1:53676852 CCGCCCGGCCTCCGTCTATACA / C
• MyVariant Identifiers: chr1:g.53676853_53676873del (hg19) ; chr1:g.53211181_53211201del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53211181_53211201del , CM000663.2:g.53211181_53211201del	GRCh38
NC_000001.10:g.53676853_53676873del , CM000663.1:g.53676853_53676873del	GRCh37
NC_000001.9:g.53449441_53449461del	NCBI36
NG_008035.1:g.19753_19773del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371486.4:c.1507_1527del MANE Select	ENSP00000360541.3:p.Arg503_Thr509del
ENST00000635862.1:c.1507_1527del	ENSP00000490867.1:p.Arg503_Thr509del
ENST00000635888.1:c.*1493_*1513del	ENSP00000490042.1:n.*1493_*1513del
ENST00000636239.1:c.*1154_*1174del	ENSP00000490066.1:n.*1154_*1174del
ENST00000636867.1:c.1507_1527del	ENSP00000489631.1:p.Arg503_Thr509del
ENST00000636891.1:c.1507_1527del	ENSP00000490399.1:p.Arg503_Thr509del
ENST00000636935.1:c.341-2083_341-2063del	ENSP00000489757.1:n.341-2083_341-2063del
ENST00000637252.1:c.1507_1527del	ENSP00000490492.1:p.Arg503_Thr509del
ENST00000637726.1:n.3707_3727del
ENST00000638135.1:c.*1154_*1174del	ENSP00000489756.1:n.*1154_*1174del
ENST00000371486.3:c.1507_1527del	ENSP00000360541.3:p.Arg503_Thr509del
NM_000098.2:c.1507_1527del	NP_000089.1:p.Arg503_Thr509del
XM_005270484.1:c.1507_1527del	XP_005270541.1:p.Arg503_Thr509del
NM_001330589.1:c.1507_1527del	NP_001317518.1:p.Arg503_Thr509del
NM_000098.3:c.1507_1527del MANE Select	NP_000089.1:p.Arg503_Thr509del
NM_001330589.2:c.1507_1527del	NP_001317518.1:p.Arg503_Thr509del