Canonical Allele Identifier: CA44506967

Gene: CAD

Linked Data

• dbSNP Id: rs1024893394
• gnomAD v2: 2-27454773-CAA-C
• gnomAD v3: 2-27231905-CAA-C
• gnomAD v4: 2-27231905-CAA-C
• MyVariant Identifiers: chr2:g.27454774_27454775del (hg19) ; chr2:g.27231906_27231907del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27231906_27231907del , CM000664.2:g.27231906_27231907del	GRCh38
NC_000002.11:g.27454774_27454775del , CM000664.1:g.27454774_27454775del	GRCh37
NC_000002.10:g.27308278_27308279del	NCBI36
NG_046394.1:g.19517_19518del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2401-74_2401-73del MANE Select	ENSP00000264705.3:n.2401-74_2401-73del
ENST00000264705.8:c.2401-74_2401-73del	ENSP00000264705.3:n.2401-74_2401-73del
ENST00000403525.5:c.2212-74_2212-73del	ENSP00000384510.1:n.2212-74_2212-73del
ENST00000464159.1:n.149-74_149-73del
NM_001306079.1:c.2212-74_2212-73del	NP_001293008.1:n.2212-74_2212-73del
NM_004341.3:c.2401-74_2401-73del	NP_004332.2:n.2401-74_2401-73del
NM_004341.4:c.2401-74_2401-73del	NP_004332.2:n.2401-74_2401-73del
XM_005264555.2:c.2401-74_2401-73del	XP_005264612.1:n.2401-74_2401-73del
XM_005264556.2:c.2401-74_2401-73del	XP_005264613.1:n.2401-74_2401-73del
XM_005264557.2:c.2401-74_2401-73del	XP_005264614.1:n.2401-74_2401-73del
XM_006712101.1:c.2212-74_2212-73del	XP_006712164.1:n.2212-74_2212-73del
XM_006712101.3:c.2212-74_2212-73del	XP_006712164.1:n.2212-74_2212-73del
XM_024453131.1:c.127-74_127-73del	XP_024308899.1:n.127-74_127-73del
NM_004341.5:c.2401-74_2401-73del MANE Select	NP_004332.2:n.2401-74_2401-73del
NM_001306079.2:c.2212-74_2212-73del	NP_001293008.1:n.2212-74_2212-73del