Canonical Allele Identifier: CA2645711481

Gene: CPT2

Linked Data

• gnomAD v4: 1-53210178-TGGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210179_53210182del , CM000663.2:g.53210179_53210182del	GRCh38
NC_000001.10:g.53675851_53675854del , CM000663.1:g.53675851_53675854del	GRCh37
NC_000001.9:g.53448439_53448442del	NCBI36
NG_008035.1:g.18751_18754del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.505_508del MANE Select	ENSP00000360541.3:p.Gly169PhefsTer9
ENST00000635862.1:c.505_508del	ENSP00000490867.1:p.Gly169PhefsTer9
ENST00000635888.1:c.*491_*494del	ENSP00000490042.1:n.*491_*494del
ENST00000636239.1:c.*152_*155del	ENSP00000490066.1:n.*152_*155del
ENST00000636867.1:c.505_508del	ENSP00000489631.1:p.Gly169PhefsTer9
ENST00000636891.1:c.505_508del	ENSP00000490399.1:p.Gly169PhefsTer9
ENST00000636935.1:c.341-3085_341-3082del	ENSP00000489757.1:n.341-3085_341-3082del
ENST00000637252.1:c.505_508del	ENSP00000490492.1:p.Gly169PhefsTer9
ENST00000637726.1:n.2705_2708del
ENST00000638135.1:c.*152_*155del	ENSP00000489756.1:n.*152_*155del
ENST00000371486.3:c.505_508del	ENSP00000360541.3:p.Gly169PhefsTer9
NM_000098.2:c.505_508del	NP_000089.1:p.Gly169PhefsTer9
XM_005270484.1:c.505_508del	XP_005270541.1:p.Gly169PhefsTer9
NM_001330589.1:c.505_508del	NP_001317518.1:p.Gly169PhefsTer9
NM_000098.3:c.505_508del MANE Select	NP_000089.1:p.Gly169PhefsTer9
NM_001330589.2:c.505_508del	NP_001317518.1:p.Gly169PhefsTer9