Canonical Allele Identifier: CA2739274180

Gene: CAD

Linked Data

• ClinVar Variation Id: 2860782
• ClinVar RCV Id: RCV003697047

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27231993dup , CM000664.2:g.27231993dup	GRCh38
NC_000002.11:g.27454861dup , CM000664.1:g.27454861dup	GRCh37
NC_000002.10:g.27308365dup	NCBI36
NG_046394.1:g.19604dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2414dup MANE Select	ENSP00000264705.3:p.Thr806AsnfsTer3
ENST00000264705.8:c.2414dup	ENSP00000264705.3:p.Thr806AsnfsTer3
ENST00000403525.5:c.2225dup	ENSP00000384510.1:p.Thr743AsnfsTer3
ENST00000464159.1:n.162dup
NM_001306079.1:c.2225dup	NP_001293008.1:p.Thr743AsnfsTer3
NM_004341.3:c.2414dup	NP_004332.2:p.Thr806AsnfsTer3
NM_004341.4:c.2414dup	NP_004332.2:p.Thr806AsnfsTer3
XM_005264555.2:c.2414dup	XP_005264612.1:p.Thr806AsnfsTer3
XM_005264556.2:c.2414dup	XP_005264613.1:p.Thr806AsnfsTer3
XM_005264557.2:c.2414dup	XP_005264614.1:p.Thr806AsnfsTer3
XM_006712101.1:c.2225dup	XP_006712164.1:p.Thr743AsnfsTer3
XM_006712101.3:c.2225dup	XP_006712164.1:p.Thr743AsnfsTer3
XM_024453131.1:c.140dup	XP_024308899.1:p.Thr48AsnfsTer3
NM_004341.5:c.2414dup MANE Select	NP_004332.2:p.Thr806AsnfsTer3
NM_001306079.2:c.2225dup	NP_001293008.1:p.Thr743AsnfsTer3