Canonical Allele Identifier: CA531763557

Gene: CAD

Linked Data

• dbSNP Id: rs1558536821
• gnomAD v2: 2-27455289-GTGTT-G
• gnomAD v4: 2-27232421-GTGTT-G
• MyVariant Identifiers: chr2:g.27455290_27455293del (hg19) ; chr2:g.27232422_27232425del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27232423_27232426del , CM000664.2:g.27232423_27232426del	GRCh38
NC_000002.11:g.27455291_27455294del , CM000664.1:g.27455291_27455294del	GRCh37
NC_000002.10:g.27308795_27308798del	NCBI36
NG_046394.1:g.20034_20037del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2646-25_2646-22del MANE Select	ENSP00000264705.3:n.2646-25_2646-22del
ENST00000264705.8:c.2646-25_2646-22del	ENSP00000264705.3:n.2646-25_2646-22del
ENST00000403525.5:c.2457-25_2457-22del	ENSP00000384510.1:n.2457-25_2457-22del
ENST00000464159.1:n.394-25_394-22del
NM_001306079.1:c.2457-25_2457-22del	NP_001293008.1:n.2457-25_2457-22del
NM_004341.3:c.2646-25_2646-22del	NP_004332.2:n.2646-25_2646-22del
NM_004341.4:c.2646-25_2646-22del	NP_004332.2:n.2646-25_2646-22del
XM_005264555.2:c.2646-25_2646-22del	XP_005264612.1:n.2646-25_2646-22del
XM_005264556.2:c.2646-25_2646-22del	XP_005264613.1:n.2646-25_2646-22del
XM_005264557.2:c.2646-25_2646-22del	XP_005264614.1:n.2646-25_2646-22del
XM_006712101.1:c.2457-25_2457-22del	XP_006712164.1:n.2457-25_2457-22del
XM_006712101.3:c.2457-25_2457-22del	XP_006712164.1:n.2457-25_2457-22del
XM_024453131.1:c.372-25_372-22del	XP_024308899.1:n.372-25_372-22del
NM_004341.5:c.2646-25_2646-22del MANE Select	NP_004332.2:n.2646-25_2646-22del
NM_001306079.2:c.2457-25_2457-22del	NP_001293008.1:n.2457-25_2457-22del