Canonical Allele Identifier: CA44506973

Gene: CAD

Linked Data

• dbSNP Id: rs138932902
• gnomAD v3: 2-27231919-T-TAA
• gnomAD v4: 2-27231919-T-TAA
• MyVariant Identifiers: chr2:g.27454787_27454788insAA (hg19) ; chr2:g.27231919_27231920insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27231920_27231921insAA , CM000664.2:g.27231920_27231921insAA	GRCh38
NC_000002.11:g.27454788_27454789insAA , CM000664.1:g.27454788_27454789insAA	GRCh37
NC_000002.10:g.27308292_27308293insAA	NCBI36
NG_046394.1:g.19531_19532insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2401-60_2401-59insAA MANE Select	ENSP00000264705.3:n.2401-60_2401-59insAA
ENST00000264705.8:c.2401-60_2401-59insAA	ENSP00000264705.3:n.2401-60_2401-59insAA
ENST00000403525.5:c.2212-60_2212-59insAA	ENSP00000384510.1:n.2212-60_2212-59insAA
ENST00000464159.1:n.149-60_149-59insAA
NM_001306079.1:c.2212-60_2212-59insAA	NP_001293008.1:n.2212-60_2212-59insAA
NM_004341.3:c.2401-60_2401-59insAA	NP_004332.2:n.2401-60_2401-59insAA
NM_004341.4:c.2401-60_2401-59insAA	NP_004332.2:n.2401-60_2401-59insAA
XM_005264555.2:c.2401-60_2401-59insAA	XP_005264612.1:n.2401-60_2401-59insAA
XM_005264556.2:c.2401-60_2401-59insAA	XP_005264613.1:n.2401-60_2401-59insAA
XM_005264557.2:c.2401-60_2401-59insAA	XP_005264614.1:n.2401-60_2401-59insAA
XM_006712101.1:c.2212-60_2212-59insAA	XP_006712164.1:n.2212-60_2212-59insAA
XM_006712101.3:c.2212-60_2212-59insAA	XP_006712164.1:n.2212-60_2212-59insAA
XM_024453131.1:c.127-60_127-59insAA	XP_024308899.1:n.127-60_127-59insAA
NM_004341.5:c.2401-60_2401-59insAA MANE Select	NP_004332.2:n.2401-60_2401-59insAA
NM_001306079.2:c.2212-60_2212-59insAA	NP_001293008.1:n.2212-60_2212-59insAA