Canonical Allele Identifier: CA7707134

Gene: WDR73 SCAND2P

Linked Data

• ClinVar Variation Id: 286528
• ClinVar RCV Id: RCV000369066 ; RCV003150812 ; RCV003977784
• dbSNP Id: rs747109506
• ExAC: 15:85186705 C / CG
• gnomAD v2: 15-85186705-C-CG
• gnomAD v3: 15-84643474-C-CG
• gnomAD v4: 15-84643474-C-CG
• MyVariant Identifiers: chr15:g.85186706dupG (hg19) ; chr15:g.85186706_85186707insG (hg19) ; chr15:g.85186705_85186706insG (hg19) ; chr15:g.84643475dupG (hg38) ; chr15:g.84643475_84643476insG (hg38) ; chr15:g.84643474_84643475insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.84643480dup , CM000677.2:g.84643480dup	GRCh38
NC_000015.9:g.85186711dup , CM000677.1:g.85186711dup	GRCh37
NC_000015.8:g.82987715dup	NCBI36
NG_042034.1:g.15869dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000434634.7:c.1132dup (WDR73) MANE Select	ENSP00000387982.3:p.Arg378ProfsTer12
ENST00000348993.9:n.4977dup (SCAND2P)
ENST00000398528.7:n.1208dup (WDR73)
ENST00000434634.6:c.1132dup (WDR73)	ENSP00000387982.2:p.Arg378ProfsTer12
ENST00000558608.1:n.1824dup (WDR73)
ENST00000559015.5:n.1720dup (WDR73)
ENST00000559126.5:n.1638dup (WDR73)
ENST00000559994.5:n.1356dup (WDR73)
NM_032856.3:c.1132dup (WDR73)	NP_116245.2:p.Arg378ProfsTer12
NR_130944.1:n.1638dup (WDR73)
NR_130945.1:n.1314dup (WDR73)
NR_130946.1:n.1208dup (WDR73)
NR_130947.1:n.1112dup (WDR73)
XR_243214.1:n.1359dup (WDR73)
XR_001751407.2:n.1377dup (WDR73)
XR_001751408.2:n.1397dup (WDR73)
XR_243214.3:n.1359dup (WDR73)
NM_032856.5:c.1132dup (WDR73) MANE Select	NP_116245.2:p.Arg378ProfsTer12
NR_130944.2:n.1675dup (WDR73)
NR_130945.2:n.1254dup (WDR73)
NR_130946.2:n.1148dup (WDR73)
NR_130947.2:n.1052dup (WDR73)