Canonical Allele Identifier: CA2645711464

Gene: CPT2

Linked Data

• gnomAD v4: 1-53210153-TCCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210154_53210156del , CM000663.2:g.53210154_53210156del	GRCh38
NC_000001.10:g.53675826_53675828del , CM000663.1:g.53675826_53675828del	GRCh37
NC_000001.9:g.53448414_53448416del	NCBI36
NG_008035.1:g.18726_18728del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.480_482del MANE Select	ENSP00000360541.3:p.Ile160_Arg161delinsMet
ENST00000635862.1:c.480_482del	ENSP00000490867.1:p.Ile160_Arg161delinsMet
ENST00000635888.1:c.*466_*468del	ENSP00000490042.1:n.*466_*468del
ENST00000636239.1:c.*127_*129del	ENSP00000490066.1:n.*127_*129del
ENST00000636867.1:c.480_482del	ENSP00000489631.1:p.Ile160_Arg161delinsMet
ENST00000636891.1:c.480_482del	ENSP00000490399.1:p.Ile160_Arg161delinsMet
ENST00000636935.1:c.341-3110_341-3108del	ENSP00000489757.1:n.341-3110_341-3108del
ENST00000637252.1:c.480_482del	ENSP00000490492.1:p.Ile160_Arg161delinsMet
ENST00000637726.1:n.2680_2682del
ENST00000638135.1:c.*127_*129del	ENSP00000489756.1:n.*127_*129del
ENST00000371486.3:c.480_482del	ENSP00000360541.3:p.Ile160_Arg161delinsMet
NM_000098.2:c.480_482del	NP_000089.1:p.Ile160_Arg161delinsMet
XM_005270484.1:c.480_482del	XP_005270541.1:p.Ile160_Arg161delinsMet
NM_001330589.1:c.480_482del	NP_001317518.1:p.Ile160_Arg161delinsMet
NM_000098.3:c.480_482del MANE Select	NP_000089.1:p.Ile160_Arg161delinsMet
NM_001330589.2:c.480_482del	NP_001317518.1:p.Ile160_Arg161delinsMet