Canonical Allele Identifier: CA2645711404

Gene: CPT2

Linked Data

• gnomAD v4: 1-53213408-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53213409del , CM000663.2:g.53213409del	GRCh38
NC_000001.10:g.53679081del , CM000663.1:g.53679081del	GRCh37
NC_000001.9:g.53451669del	NCBI36
NG_008035.1:g.21981del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371486.4:c.1791del MANE Select	ENSP00000360541.3:p.Asn598ThrfsTer24
ENST00000635862.1:c.1758del	ENSP00000490867.1:p.Asn587ThrfsTer24
ENST00000635888.1:c.*1777del	ENSP00000490042.1:n.*1777del
ENST00000636239.1:c.*1438del	ENSP00000490066.1:n.*1438del
ENST00000636867.1:c.1722del	ENSP00000489631.1:p.Asn575ThrfsTer24
ENST00000636891.1:c.*44del	ENSP00000490399.1:n.*44del
ENST00000636935.1:c.486del	ENSP00000489757.1:p.Asn163ThrfsTer24
ENST00000637252.1:c.1827del	ENSP00000490492.1:p.Asn610ThrfsTer24
ENST00000638135.1:c.*1438del	ENSP00000489756.1:n.*1438del
ENST00000371486.3:c.1791del	ENSP00000360541.3:p.Asn598ThrfsTer24
NM_000098.2:c.1791del	NP_000089.1:p.Asn598ThrfsTer24
XM_005270484.1:c.1722del	XP_005270541.1:p.Asn575ThrfsTer24
NM_001330589.1:c.1722del	NP_001317518.1:p.Asn575ThrfsTer24
NM_000098.3:c.1791del MANE Select	NP_000089.1:p.Asn598ThrfsTer24
NM_001330589.2:c.1722del	NP_001317518.1:p.Asn575ThrfsTer24