Canonical Allele Identifier: CA2645711463

Gene: CPT2

Linked Data

• gnomAD v4: 1-53210153-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210155del , CM000663.2:g.53210155del	GRCh38
NC_000001.10:g.53675827del , CM000663.1:g.53675827del	GRCh37
NC_000001.9:g.53448415del	NCBI36
NG_008035.1:g.18727del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.481del MANE Select	ENSP00000360541.3:p.Arg161GlyfsTer3
ENST00000635862.1:c.481del	ENSP00000490867.1:p.Arg161GlyfsTer3
ENST00000635888.1:c.*467del	ENSP00000490042.1:n.*467del
ENST00000636239.1:c.*128del	ENSP00000490066.1:n.*128del
ENST00000636867.1:c.481del	ENSP00000489631.1:p.Arg161GlyfsTer3
ENST00000636891.1:c.481del	ENSP00000490399.1:p.Arg161GlyfsTer3
ENST00000636935.1:c.341-3109del	ENSP00000489757.1:n.341-3109del
ENST00000637252.1:c.481del	ENSP00000490492.1:p.Arg161GlyfsTer3
ENST00000637726.1:n.2681del
ENST00000638135.1:c.*128del	ENSP00000489756.1:n.*128del
ENST00000371486.3:c.481del	ENSP00000360541.3:p.Arg161GlyfsTer3
NM_000098.2:c.481del	NP_000089.1:p.Arg161GlyfsTer3
XM_005270484.1:c.481del	XP_005270541.1:p.Arg161GlyfsTer3
NM_001330589.1:c.481del	NP_001317518.1:p.Arg161GlyfsTer3
NM_000098.3:c.481del MANE Select	NP_000089.1:p.Arg161GlyfsTer3
NM_001330589.2:c.481del	NP_001317518.1:p.Arg161GlyfsTer3