Canonical Allele Identifier: CA2739274181

Gene: CAD

Linked Data

• ClinVar Variation Id: 2824063
• ClinVar RCV Id: RCV003678095

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27232441_27232442del , CM000664.2:g.27232441_27232442del	GRCh38
NC_000002.11:g.27455309_27455310del , CM000664.1:g.27455309_27455310del	GRCh37
NC_000002.10:g.27308813_27308814del	NCBI36
NG_046394.1:g.20052_20053del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2646-7_2646-6del MANE Select	ENSP00000264705.3:n.2646-7_2646-6del
ENST00000264705.8:c.2646-7_2646-6del	ENSP00000264705.3:n.2646-7_2646-6del
ENST00000403525.5:c.2457-7_2457-6del	ENSP00000384510.1:n.2457-7_2457-6del
ENST00000464159.1:n.394-7_394-6del
NM_001306079.1:c.2457-7_2457-6del	NP_001293008.1:n.2457-7_2457-6del
NM_004341.3:c.2646-7_2646-6del	NP_004332.2:n.2646-7_2646-6del
NM_004341.4:c.2646-7_2646-6del	NP_004332.2:n.2646-7_2646-6del
XM_005264555.2:c.2646-7_2646-6del	XP_005264612.1:n.2646-7_2646-6del
XM_005264556.2:c.2646-7_2646-6del	XP_005264613.1:n.2646-7_2646-6del
XM_005264557.2:c.2646-7_2646-6del	XP_005264614.1:n.2646-7_2646-6del
XM_006712101.1:c.2457-7_2457-6del	XP_006712164.1:n.2457-7_2457-6del
XM_006712101.3:c.2457-7_2457-6del	XP_006712164.1:n.2457-7_2457-6del
XM_024453131.1:c.372-7_372-6del	XP_024308899.1:n.372-7_372-6del
NM_004341.5:c.2646-7_2646-6del MANE Select	NP_004332.2:n.2646-7_2646-6del
NM_001306079.2:c.2457-7_2457-6del	NP_001293008.1:n.2457-7_2457-6del