Canonical Allele Identifier: CA2645708355

Gene: CPT2

Linked Data

• gnomAD v4: 1-53210717-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210720del , CM000663.2:g.53210720del	GRCh38
NC_000001.10:g.53676392del , CM000663.1:g.53676392del	GRCh37
NC_000001.9:g.53448980del	NCBI36
NG_008035.1:g.19292del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1046del MANE Select	ENSP00000360541.3:p.Asn349ThrfsTer?
ENST00000635862.1:c.1046del	ENSP00000490867.1:p.Asn349ThrfsTer?
ENST00000635888.1:c.*1032del	ENSP00000490042.1:n.*1032del
ENST00000636239.1:c.*693del	ENSP00000490066.1:n.*693del
ENST00000636867.1:c.1046del	ENSP00000489631.1:p.Asn349ThrfsTer?
ENST00000636891.1:c.1046del	ENSP00000490399.1:p.Asn349ThrfsTer?
ENST00000636935.1:c.341-2544del	ENSP00000489757.1:n.341-2544del
ENST00000637252.1:c.1046del	ENSP00000490492.1:p.Asn349ThrfsTer?
ENST00000637726.1:n.3246del
ENST00000638135.1:c.*693del	ENSP00000489756.1:n.*693del
ENST00000371486.3:c.1046del	ENSP00000360541.3:p.Asn349ThrfsTer?
NM_000098.2:c.1046del	NP_000089.1:p.Asn349ThrfsTer?
XM_005270484.1:c.1046del	XP_005270541.1:p.Asn349ThrfsTer?
NM_001330589.1:c.1046del	NP_001317518.1:p.Asn349ThrfsTer?
NM_000098.3:c.1046del MANE Select	NP_000089.1:p.Asn349ThrfsTer?
NM_001330589.2:c.1046del	NP_001317518.1:p.Asn349ThrfsTer?