Canonical Allele Identifier: CA1573064

Gene: CAD

Linked Data

• dbSNP Id: rs780269586
• ExAC: 2:27455265 GTCTGTACCCTAC / G
• gnomAD v2: 2-27455265-GTCTGTACCCTAC-G
• MyVariant Identifiers: chr2:g.27455266_27455277del (hg19) ; chr2:g.27232398_27232409del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27232401_27232412del , CM000664.2:g.27232401_27232412del	GRCh38
NC_000002.11:g.27455269_27455280del , CM000664.1:g.27455269_27455280del	GRCh37
NC_000002.10:g.27308773_27308784del	NCBI36
NG_046394.1:g.20012_20023del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2646-47_2646-36del MANE Select	ENSP00000264705.3:n.2646-47_2646-36del
ENST00000264705.8:c.2646-47_2646-36del	ENSP00000264705.3:n.2646-47_2646-36del
ENST00000403525.5:c.2457-47_2457-36del	ENSP00000384510.1:n.2457-47_2457-36del
ENST00000464159.1:n.394-47_394-36del
NM_001306079.1:c.2457-47_2457-36del	NP_001293008.1:n.2457-47_2457-36del
NM_004341.3:c.2646-47_2646-36del	NP_004332.2:n.2646-47_2646-36del
NM_004341.4:c.2646-47_2646-36del	NP_004332.2:n.2646-47_2646-36del
XM_005264555.2:c.2646-47_2646-36del	XP_005264612.1:n.2646-47_2646-36del
XM_005264556.2:c.2646-47_2646-36del	XP_005264613.1:n.2646-47_2646-36del
XM_005264557.2:c.2646-47_2646-36del	XP_005264614.1:n.2646-47_2646-36del
XM_006712101.1:c.2457-47_2457-36del	XP_006712164.1:n.2457-47_2457-36del
XM_006712101.3:c.2457-47_2457-36del	XP_006712164.1:n.2457-47_2457-36del
XM_024453131.1:c.372-47_372-36del	XP_024308899.1:n.372-47_372-36del
NM_004341.5:c.2646-47_2646-36del MANE Select	NP_004332.2:n.2646-47_2646-36del
NM_001306079.2:c.2457-47_2457-36del	NP_001293008.1:n.2457-47_2457-36del