Canonical Allele Identifier: CA249838

Gene: WDR73 SCAND2P

Linked Data

• ClinVar Variation Id: 208466
• ClinVar RCV Id: RCV000190489
• dbSNP Id: rs767086146
• ExAC: 15:85189530 ACT / A
• gnomAD v2: 15-85189530-ACT-A
• gnomAD v3: 15-84646299-ACT-A
• gnomAD v4: 15-84646299-ACT-A
• MyVariant Identifiers: chr15:g.85189531_85189532del (hg19) ; chr15:g.84646300_84646301del (hg38)
• PubMed: PMID:26123727

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.84646303_84646304del , CM000677.2:g.84646303_84646304del	GRCh38
NC_000015.9:g.85189534_85189535del , CM000677.1:g.85189534_85189535del	GRCh37
NC_000015.8:g.82990538_82990539del	NCBI36
NG_042034.1:g.13043_13044del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434634.7:c.400_401del (WDR73) MANE Select	ENSP00000387982.3:p.Trp136AlafsTer2
ENST00000348993.9:n.7800_7801del (SCAND2P)
ENST00000398528.7:n.476_477del (WDR73)
ENST00000434634.6:c.400_401del (WDR73)	ENSP00000387982.2:p.Trp136AlafsTer2
ENST00000558521.5:c.399_400del (WDR73)
ENST00000558608.1:n.745_746del (WDR73)
ENST00000559015.5:n.988_989del (WDR73)
ENST00000559126.5:n.906_907del (WDR73)
ENST00000559178.5:c.718_719del (WDR73)
ENST00000559224.5:c.303_304del (WDR73)
ENST00000559452.5:n.864_865del (WDR73)
ENST00000559994.5:n.413_414del (WDR73)
ENST00000560088.5:n.410_411del (WDR73)
ENST00000560835.5:n.416_417del (WDR73)
ENST00000560966.5:n.3725_3726del (WDR73)
ENST00000561329.5:n.400_401del (WDR73)
NM_032856.3:c.400_401del (WDR73)	NP_116245.2:p.Trp136AlafsTer2
NR_130944.1:n.906_907del (WDR73)
NR_130945.1:n.469_470del (WDR73)
NR_130946.1:n.476_477del (WDR73)
NR_130947.1:n.380_381del (WDR73)
XR_243214.1:n.416_417del (WDR73)
XR_001751407.2:n.409_410del (WDR73)
XR_001751408.2:n.416_417del (WDR73)
XR_243214.3:n.416_417del (WDR73)
NM_032856.5:c.400_401del (WDR73) MANE Select	NP_116245.2:p.Trp136AlafsTer2
NR_130944.2:n.943_944del (WDR73)
NR_130945.2:n.409_410del (WDR73)
NR_130946.2:n.416_417del (WDR73)
NR_130947.2:n.320_321del (WDR73)