Canonical Allele Identifier: CA767356434

Gene: CAD

Linked Data

• dbSNP Id: rs1181059672
• gnomAD v3: 2-27231958-C-CTA
• gnomAD v4: 2-27231958-C-CTA
• MyVariant Identifiers: chr2:g.27454826_27454827insTA (hg19) ; chr2:g.27231958_27231959insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27231959_27231960insAT , CM000664.2:g.27231959_27231960insAT	GRCh38
NC_000002.11:g.27454827_27454828insAT , CM000664.1:g.27454827_27454828insAT	GRCh37
NC_000002.10:g.27308331_27308332insAT	NCBI36
NG_046394.1:g.19570_19571insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2401-21_2401-20insAT MANE Select	ENSP00000264705.3:n.2401-21_2401-20insAT
ENST00000264705.8:c.2401-21_2401-20insAT	ENSP00000264705.3:n.2401-21_2401-20insAT
ENST00000403525.5:c.2212-21_2212-20insAT	ENSP00000384510.1:n.2212-21_2212-20insAT
ENST00000464159.1:n.149-21_149-20insAT
NM_001306079.1:c.2212-21_2212-20insAT	NP_001293008.1:n.2212-21_2212-20insAT
NM_004341.3:c.2401-21_2401-20insAT	NP_004332.2:n.2401-21_2401-20insAT
NM_004341.4:c.2401-21_2401-20insAT	NP_004332.2:n.2401-21_2401-20insAT
XM_005264555.2:c.2401-21_2401-20insAT	XP_005264612.1:n.2401-21_2401-20insAT
XM_005264556.2:c.2401-21_2401-20insAT	XP_005264613.1:n.2401-21_2401-20insAT
XM_005264557.2:c.2401-21_2401-20insAT	XP_005264614.1:n.2401-21_2401-20insAT
XM_006712101.1:c.2212-21_2212-20insAT	XP_006712164.1:n.2212-21_2212-20insAT
XM_006712101.3:c.2212-21_2212-20insAT	XP_006712164.1:n.2212-21_2212-20insAT
XM_024453131.1:c.127-21_127-20insAT	XP_024308899.1:n.127-21_127-20insAT
NM_004341.5:c.2401-21_2401-20insAT MANE Select	NP_004332.2:n.2401-21_2401-20insAT
NM_001306079.2:c.2212-21_2212-20insAT	NP_001293008.1:n.2212-21_2212-20insAT