Canonical Allele Identifier: CA1573005

Gene: CAD

Linked Data

• dbSNP Id: rs778756481
• ExAC: 2:27454797 C / CT
• gnomAD v2: 2-27454797-C-CT
• gnomAD v4: 2-27231929-C-CT
• MyVariant Identifiers: chr2:g.27454797_27454798insT (hg19) ; chr2:g.27231929_27231930insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27231933dup , CM000664.2:g.27231933dup	GRCh38
NC_000002.11:g.27454801dup , CM000664.1:g.27454801dup	GRCh37
NC_000002.10:g.27308305dup	NCBI36
NG_046394.1:g.19544dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2401-47dup MANE Select	ENSP00000264705.3:n.2401-47dup
ENST00000264705.8:c.2401-47dup	ENSP00000264705.3:n.2401-47dup
ENST00000403525.5:c.2212-47dup	ENSP00000384510.1:n.2212-47dup
ENST00000464159.1:n.149-47dup
NM_001306079.1:c.2212-47dup	NP_001293008.1:n.2212-47dup
NM_004341.3:c.2401-47dup	NP_004332.2:n.2401-47dup
NM_004341.4:c.2401-47dup	NP_004332.2:n.2401-47dup
XM_005264555.2:c.2401-47dup	XP_005264612.1:n.2401-47dup
XM_005264556.2:c.2401-47dup	XP_005264613.1:n.2401-47dup
XM_005264557.2:c.2401-47dup	XP_005264614.1:n.2401-47dup
XM_006712101.1:c.2212-47dup	XP_006712164.1:n.2212-47dup
XM_006712101.3:c.2212-47dup	XP_006712164.1:n.2212-47dup
XM_024453131.1:c.127-47dup	XP_024308899.1:n.127-47dup
NM_004341.5:c.2401-47dup MANE Select	NP_004332.2:n.2401-47dup
NM_001306079.2:c.2212-47dup	NP_001293008.1:n.2212-47dup