Canonical Allele Identifier: CA8273264

Gene: WDR81

Linked Data

• dbSNP Id: rs759330994
• ExAC: 17:1631748 AGAG / A
• gnomAD v2: 17-1631748-AGAG-A
• gnomAD v3: 17-1728454-AGAG-A
• gnomAD v4: 17-1728454-AGAG-A
• MyVariant Identifiers: chr17:g.1631749_1631751del (hg19) ; chr17:g.1728456_1728458del (hg38) ; chr17:g.1728455_1728457del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1728465_1728467del , CM000679.2:g.1728465_1728467del	GRCh38
NC_000017.10:g.1631759_1631761del , CM000679.1:g.1631759_1631761del	GRCh37
NC_000017.9:g.1578509_1578511del	NCBI36
NG_032811.1:g.16943_16945del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409644.6:c.3506_3508del MANE Select	ENSP00000386609.1:p.Glu1169del
ENST00000309182.9:c.353_355del	ENSP00000312074.5:p.Glu118del
ENST00000409644.5:c.3506_3508del	ENSP00000386609.1:p.Glu1169del
ENST00000418841.5:c.-89+3679_-89+3681del	ENSP00000395198.1:n.-89+3679_-89+3681del
ENST00000419248.5:c.-14-1915_-14-1913del	ENSP00000407845.1:n.-14-1915_-14-1913del
ENST00000437219.6:c.59-1915_59-1913del	ENSP00000391074.2:n.59-1915_59-1913del
ENST00000446363.5:c.-308-2290_-308-2288del	ENSP00000401560.1:n.-308-2290_-308-2288del
ENST00000455636.5:c.59-1915_59-1913del	ENSP00000395226.1:n.59-1915_59-1913del
ENST00000464528.5:n.892_894del
ENST00000468539.5:c.63-3860_63-3858del	ENSP00000460742.1:n.63-3860_63-3858del
ENST00000492901.1:n.88-1915_88-1913del
ENST00000575206.1:c.256_258del
NM_001163673.1:c.59-1915_59-1913del	NP_001157145.1:n.59-1915_59-1913del
NM_001163809.1:c.3506_3508del	NP_001157281.1:p.Glu1169del
NM_001163811.1:c.-14-1915_-14-1913del	NP_001157283.1:n.-14-1915_-14-1913del
NM_152348.3:c.353_355del	NP_689561.2:p.Glu118del
XM_005256454.2:c.3506_3508del	XP_005256511.1:p.Glu1169del
XM_011523650.1:c.3506_3508del	XP_011521952.1:p.Glu1169del
XM_011523651.1:c.353_355del	XP_011521953.1:p.Glu118del
XR_933973.1:n.3650_3652del
XM_011523651.2:c.353_355del	XP_011521953.1:p.Glu118del
XM_017024184.1:c.3506_3508del	XP_016879673.1:p.Glu1169del
XR_001752427.1:n.3658_3660del
XR_933973.2:n.3658_3660del
NM_001163809.2:c.3506_3508del MANE Select	NP_001157281.1:p.Glu1169del
NM_001163811.2:c.-14-1915_-14-1913del	NP_001157283.1:n.-14-1915_-14-1913del
NM_152348.4:c.353_355del	NP_689561.2:p.Glu118del
NM_001163673.2:c.59-1915_59-1913del	NP_001157145.1:n.59-1915_59-1913del