Canonical Allele Identifier: CA585888154

Gene: DOCK8

Linked Data

• dbSNP Id: rs1228694084
• gnomAD v2: 9-451743-A-AT
• gnomAD v3: 9-451743-A-AT
• gnomAD v4: 9-451743-A-AT
• MyVariant Identifiers: chr9:g.451744_451745insT (hg19) ; chr9:g.451743_451744insT (hg19) ; chr9:g.451744_451745insT (hg38) ; chr9:g.451743_451744insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.451752dup , CM000671.2:g.451752dup	GRCh38
NC_000009.11:g.451752dup , CM000671.1:g.451752dup	GRCh37
NC_000009.10:g.441752dup	NCBI36
NG_017007.1:g.241888dup , LRG_196:g.241888dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5662-259dup	ENSP00000371766.2:n.5662-259dup
ENST00000683406.1:n.2437-259dup
ENST00000684637.1:n.1643-259dup
ENST00000685949.1:n.4750-259dup
ENST00000432829.7:c.5962-259dup MANE Select	ENSP00000394888.3:n.5962-259dup
ENST00000382329.1:c.4363-259dup	ENSP00000371766.1:n.4363-259dup
ENST00000432829.6:c.5962-259dup	ENSP00000394888.3:n.5962-259dup
ENST00000453981.5:c.5758-259dup	ENSP00000408464.2:n.5758-259dup
ENST00000469391.5:c.5662-259dup	ENSP00000419438.1:n.5662-259dup
ENST00000495184.5:n.7917-259dup
NM_001190458.1:c.5662-259dup	NP_001177387.1:n.5662-259dup
NM_001193536.1:c.5758-259dup	NP_001180465.1:n.5758-259dup
NM_203447.3:c.5962-259dup , LRG_196t1:c.5962-259dup	NP_982272.2:n.5962-259dup
XM_011518045.1:c.5662-259dup	XP_011516347.1:n.5662-259dup
XM_011518046.1:c.5824-259dup	XP_011516348.1:n.5824-259dup
XM_011518047.1:c.5758-259dup	XP_011516349.1:n.5758-259dup
XM_011518048.1:c.5758-259dup	XP_011516350.1:n.5758-259dup
XM_011518049.1:c.4198-259dup	XP_011516351.1:n.4198-259dup
XM_011518045.3:c.5662-259dup	XP_011516347.1:n.5662-259dup
XM_011518046.2:c.5824-259dup	XP_011516348.1:n.5824-259dup
XM_011518047.3:c.5758-259dup	XP_011516349.1:n.5758-259dup
XM_011518048.2:c.5758-259dup	XP_011516350.1:n.5758-259dup
XM_011518049.2:c.4198-259dup	XP_011516351.1:n.4198-259dup
XM_017015173.1:c.5758-259dup	XP_016870662.1:n.5758-259dup
XM_017015174.1:c.5824-259dup	XP_016870663.1:n.5824-259dup
NM_001190458.2:c.5662-259dup	NP_001177387.1:n.5662-259dup
NM_001193536.2:c.5758-259dup	NP_001180465.1:n.5758-259dup
NM_203447.4:c.5962-259dup MANE Select	NP_982272.2:n.5962-259dup