Canonical Allele Identifier: CA2580066267

Gene: CAD

Linked Data

• ClinVar Variation Id: 2118936
• ClinVar RCV Id: RCV003054407

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27232213del , CM000664.2:g.27232213del	GRCh38
NC_000002.11:g.27455081del , CM000664.1:g.27455081del	GRCh37
NC_000002.10:g.27308585del	NCBI36
NG_046394.1:g.19824del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2634del MANE Select	ENSP00000264705.3:p.Ala879GlnfsTer3
ENST00000264705.8:c.2634del	ENSP00000264705.3:p.Ala879GlnfsTer3
ENST00000403525.5:c.2445del	ENSP00000384510.1:p.Ala816GlnfsTer3
ENST00000464159.1:n.382del
NM_001306079.1:c.2445del	NP_001293008.1:p.Ala816GlnfsTer3
NM_004341.3:c.2634del	NP_004332.2:p.Ala879GlnfsTer3
NM_004341.4:c.2634del	NP_004332.2:p.Ala879GlnfsTer3
XM_005264555.2:c.2634del	XP_005264612.1:p.Ala879GlnfsTer3
XM_005264556.2:c.2634del	XP_005264613.1:p.Ala879GlnfsTer3
XM_005264557.2:c.2634del	XP_005264614.1:p.Ala879GlnfsTer3
XM_006712101.1:c.2445del	XP_006712164.1:p.Ala816GlnfsTer3
XM_006712101.3:c.2445del	XP_006712164.1:p.Ala816GlnfsTer3
XM_024453131.1:c.360del	XP_024308899.1:p.Ala121GlnfsTer3
NM_004341.5:c.2634del MANE Select	NP_004332.2:p.Ala879GlnfsTer3
NM_001306079.2:c.2445del	NP_001293008.1:p.Ala816GlnfsTer3