Canonical Allele Identifier: CA624565502

Gene: WDR81

Linked Data

• dbSNP Id: rs1262654933
• gnomAD v2: 17-1631797-ACT-A
• gnomAD v4: 17-1728503-ACT-A
• MyVariant Identifiers: chr17:g.1631798_1631799del (hg19) ; chr17:g.1728504_1728505del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1728506_1728507del , CM000679.2:g.1728506_1728507del	GRCh38
NC_000017.10:g.1631800_1631801del , CM000679.1:g.1631800_1631801del	GRCh37
NC_000017.9:g.1578550_1578551del	NCBI36
NG_032811.1:g.16984_16985del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409644.6:c.3547_3548del MANE Select	ENSP00000386609.1:p.Leu1183ValfsTer2
ENST00000309182.9:c.394_395del	ENSP00000312074.5:p.Leu132ValfsTer2
ENST00000409644.5:c.3547_3548del	ENSP00000386609.1:p.Leu1183ValfsTer2
ENST00000418841.5:c.-89+3720_-89+3721del	ENSP00000395198.1:n.-89+3720_-89+3721del
ENST00000419248.5:c.-14-1874_-14-1873del	ENSP00000407845.1:n.-14-1874_-14-1873del
ENST00000437219.6:c.59-1874_59-1873del	ENSP00000391074.2:n.59-1874_59-1873del
ENST00000446363.5:c.-308-2249_-308-2248del	ENSP00000401560.1:n.-308-2249_-308-2248del
ENST00000455636.5:c.59-1874_59-1873del	ENSP00000395226.1:n.59-1874_59-1873del
ENST00000464528.5:n.933_934del
ENST00000468539.5:c.63-3819_63-3818del	ENSP00000460742.1:n.63-3819_63-3818del
ENST00000492901.1:n.88-1874_88-1873del
ENST00000575206.1:c.297_298del
NM_001163673.1:c.59-1874_59-1873del	NP_001157145.1:n.59-1874_59-1873del
NM_001163809.1:c.3547_3548del	NP_001157281.1:p.Leu1183ValfsTer2
NM_001163811.1:c.-14-1874_-14-1873del	NP_001157283.1:n.-14-1874_-14-1873del
NM_152348.3:c.394_395del	NP_689561.2:p.Leu132ValfsTer2
XM_005256454.2:c.3547_3548del	XP_005256511.1:p.Leu1183ValfsTer2
XM_011523650.1:c.3547_3548del	XP_011521952.1:p.Leu1183ValfsTer2
XM_011523651.1:c.394_395del	XP_011521953.1:p.Leu132ValfsTer2
XR_933973.1:n.3691_3692del
XM_011523651.2:c.394_395del	XP_011521953.1:p.Leu132ValfsTer2
XM_017024184.1:c.3547_3548del	XP_016879673.1:p.Leu1183ValfsTer2
XR_001752427.1:n.3699_3700del
XR_933973.2:n.3699_3700del
NM_001163809.2:c.3547_3548del MANE Select	NP_001157281.1:p.Leu1183ValfsTer2
NM_001163811.2:c.-14-1874_-14-1873del	NP_001157283.1:n.-14-1874_-14-1873del
NM_152348.4:c.394_395del	NP_689561.2:p.Leu132ValfsTer2
NM_001163673.2:c.59-1874_59-1873del	NP_001157145.1:n.59-1874_59-1873del