Canonical Allele Identifier: CA767356428

Gene: CAD

Linked Data

• dbSNP Id: rs1479721659
• gnomAD v4: 2-27231884-TAC-T
• MyVariant Identifiers: chr2:g.27454753_27454754del (hg19) ; chr2:g.27231885_27231886del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27231886_27231887del , CM000664.2:g.27231886_27231887del	GRCh38
NC_000002.11:g.27454754_27454755del , CM000664.1:g.27454754_27454755del	GRCh37
NC_000002.10:g.27308258_27308259del	NCBI36
NG_046394.1:g.19497_19498del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2401-94_2401-93del MANE Select	ENSP00000264705.3:n.2401-94_2401-93del
ENST00000264705.8:c.2401-94_2401-93del	ENSP00000264705.3:n.2401-94_2401-93del
ENST00000403525.5:c.2212-94_2212-93del	ENSP00000384510.1:n.2212-94_2212-93del
ENST00000464159.1:n.149-94_149-93del
NM_001306079.1:c.2212-94_2212-93del	NP_001293008.1:n.2212-94_2212-93del
NM_004341.3:c.2401-94_2401-93del	NP_004332.2:n.2401-94_2401-93del
NM_004341.4:c.2401-94_2401-93del	NP_004332.2:n.2401-94_2401-93del
XM_005264555.2:c.2401-94_2401-93del	XP_005264612.1:n.2401-94_2401-93del
XM_005264556.2:c.2401-94_2401-93del	XP_005264613.1:n.2401-94_2401-93del
XM_005264557.2:c.2401-94_2401-93del	XP_005264614.1:n.2401-94_2401-93del
XM_006712101.1:c.2212-94_2212-93del	XP_006712164.1:n.2212-94_2212-93del
XM_006712101.3:c.2212-94_2212-93del	XP_006712164.1:n.2212-94_2212-93del
XM_024453131.1:c.127-94_127-93del	XP_024308899.1:n.127-94_127-93del
NM_004341.5:c.2401-94_2401-93del MANE Select	NP_004332.2:n.2401-94_2401-93del
NM_001306079.2:c.2212-94_2212-93del	NP_001293008.1:n.2212-94_2212-93del