Canonical Allele Identifier: CA1573082

Gene: CAD

Linked Data

• ClinVar Variation Id: 2775490
• ClinVar RCV Id: RCV003661077 ; RCV003984395
• dbSNP Id: rs768978262
• ExAC: 2:27455309 A / AT
• gnomAD v2: 2-27455309-A-AT
• gnomAD v3: 2-27232441-A-AT
• gnomAD v4: 2-27232441-A-AT
• MyVariant Identifiers: chr2:g.27455309_27455310insT (hg19) ; chr2:g.27232441_27232442insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27232445dup , CM000664.2:g.27232445dup	GRCh38
NC_000002.11:g.27455313dup , CM000664.1:g.27455313dup	GRCh37
NC_000002.10:g.27308817dup	NCBI36
NG_046394.1:g.20056dup

Transcript Alleles

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