Canonical Allele Identifier: CA2645711480

Gene: CPT2

Linked Data

• gnomAD v4: 1-53210175-GGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210176_53210177del , CM000663.2:g.53210176_53210177del	GRCh38
NC_000001.10:g.53675848_53675849del , CM000663.1:g.53675848_53675849del	GRCh37
NC_000001.9:g.53448436_53448437del	NCBI36
NG_008035.1:g.18748_18749del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.502_503del MANE Select	ENSP00000360541.3:p.Ala168TrpfsTer16
ENST00000635862.1:c.502_503del	ENSP00000490867.1:p.Ala168TrpfsTer16
ENST00000635888.1:c.*488_*489del	ENSP00000490042.1:n.*488_*489del
ENST00000636239.1:c.*149_*150del	ENSP00000490066.1:n.*149_*150del
ENST00000636867.1:c.502_503del	ENSP00000489631.1:p.Ala168TrpfsTer16
ENST00000636891.1:c.502_503del	ENSP00000490399.1:p.Ala168TrpfsTer16
ENST00000636935.1:c.341-3088_341-3087del	ENSP00000489757.1:n.341-3088_341-3087del
ENST00000637252.1:c.502_503del	ENSP00000490492.1:p.Ala168TrpfsTer16
ENST00000637726.1:n.2702_2703del
ENST00000638135.1:c.*149_*150del	ENSP00000489756.1:n.*149_*150del
ENST00000371486.3:c.502_503del	ENSP00000360541.3:p.Ala168TrpfsTer16
NM_000098.2:c.502_503del	NP_000089.1:p.Ala168TrpfsTer16
XM_005270484.1:c.502_503del	XP_005270541.1:p.Ala168TrpfsTer16
NM_001330589.1:c.502_503del	NP_001317518.1:p.Ala168TrpfsTer16
NM_000098.3:c.502_503del MANE Select	NP_000089.1:p.Ala168TrpfsTer16
NM_001330589.2:c.502_503del	NP_001317518.1:p.Ala168TrpfsTer16