Canonical Allele Identifier: CA2645711504

Gene: CPT2

Linked Data

• gnomAD v4: 1-53210250-ACGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210251_53210253del , CM000663.2:g.53210251_53210253del	GRCh38
NC_000001.10:g.53675923_53675925del , CM000663.1:g.53675923_53675925del	GRCh37
NC_000001.9:g.53448511_53448513del	NCBI36
NG_008035.1:g.18823_18825del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.577_579del MANE Select	ENSP00000360541.3:p.Arg193del
ENST00000635862.1:c.577_579del	ENSP00000490867.1:p.Arg193del
ENST00000635888.1:c.*563_*565del	ENSP00000490042.1:n.*563_*565del
ENST00000636239.1:c.*224_*226del	ENSP00000490066.1:n.*224_*226del
ENST00000636867.1:c.577_579del	ENSP00000489631.1:p.Arg193del
ENST00000636891.1:c.577_579del	ENSP00000490399.1:p.Arg193del
ENST00000636935.1:c.341-3013_341-3011del	ENSP00000489757.1:n.341-3013_341-3011del
ENST00000637252.1:c.577_579del	ENSP00000490492.1:p.Arg193del
ENST00000637726.1:n.2777_2779del
ENST00000638135.1:c.*224_*226del	ENSP00000489756.1:n.*224_*226del
ENST00000371486.3:c.577_579del	ENSP00000360541.3:p.Arg193del
NM_000098.2:c.577_579del	NP_000089.1:p.Arg193del
XM_005270484.1:c.577_579del	XP_005270541.1:p.Arg193del
NM_001330589.1:c.577_579del	NP_001317518.1:p.Arg193del
NM_000098.3:c.577_579del MANE Select	NP_000089.1:p.Arg193del
NM_001330589.2:c.577_579del	NP_001317518.1:p.Arg193del