Canonical Allele Identifier: CA4959587

Gene: DOCK8

Linked Data

• dbSNP Id: rs757190486
• ExAC: 9:451965 A / ATGTG
• gnomAD v2: 9-451965-A-ATGTG
• gnomAD v3: 9-451965-A-ATGTG
• gnomAD v4: 9-451965-A-ATGTG
• MyVariant Identifiers: chr9:g.451967_451991delinsGTGTATATATATATATTTTTTTTTTTTTT (hg19) ; chr9:g.451965_451966insTGTG (hg19) ; chr9:g.451965_451966insTGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.451966_451967insGTGT , CM000671.2:g.451966_451967insGTGT	GRCh38
NC_000009.11:g.451966_451967insGTGT , CM000671.1:g.451966_451967insGTGT	GRCh37
NC_000009.10:g.441966_441967insGTGT	NCBI36
NG_017007.1:g.242102_242103insGTGT , LRG_196:g.242102_242103insGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5662-45_5662-44insGTGT	ENSP00000371766.2:n.5662-45_5662-44insGTGT
ENST00000683406.1:n.2437-45_2437-44insGTGT
ENST00000684637.1:n.1643-45_1643-44insGTGT
ENST00000685949.1:n.4750-45_4750-44insGTGT
ENST00000432829.7:c.5962-45_5962-44insGTGT MANE Select	ENSP00000394888.3:n.5962-45_5962-44insGTGT
ENST00000382329.1:c.4363-45_4363-44insGTGT	ENSP00000371766.1:n.4363-45_4363-44insGTGT
ENST00000432829.6:c.5962-45_5962-44insGTGT	ENSP00000394888.3:n.5962-45_5962-44insGTGT
ENST00000453981.5:c.5758-45_5758-44insGTGT	ENSP00000408464.2:n.5758-45_5758-44insGTGT
ENST00000469391.5:c.5662-45_5662-44insGTGT	ENSP00000419438.1:n.5662-45_5662-44insGTGT
ENST00000495184.5:n.7917-45_7917-44insGTGT
NM_001190458.1:c.5662-45_5662-44insGTGT	NP_001177387.1:n.5662-45_5662-44insGTGT
NM_001193536.1:c.5758-45_5758-44insGTGT	NP_001180465.1:n.5758-45_5758-44insGTGT
NM_203447.3:c.5962-45_5962-44insGTGT , LRG_196t1:c.5962-45_5962-44insGTGT	NP_982272.2:n.5962-45_5962-44insGTGT
XM_011518045.1:c.5662-45_5662-44insGTGT	XP_011516347.1:n.5662-45_5662-44insGTGT
XM_011518046.1:c.5824-45_5824-44insGTGT	XP_011516348.1:n.5824-45_5824-44insGTGT
XM_011518047.1:c.5758-45_5758-44insGTGT	XP_011516349.1:n.5758-45_5758-44insGTGT
XM_011518048.1:c.5758-45_5758-44insGTGT	XP_011516350.1:n.5758-45_5758-44insGTGT
XM_011518049.1:c.4198-45_4198-44insGTGT	XP_011516351.1:n.4198-45_4198-44insGTGT
XM_011518045.3:c.5662-45_5662-44insGTGT	XP_011516347.1:n.5662-45_5662-44insGTGT
XM_011518046.2:c.5824-45_5824-44insGTGT	XP_011516348.1:n.5824-45_5824-44insGTGT
XM_011518047.3:c.5758-45_5758-44insGTGT	XP_011516349.1:n.5758-45_5758-44insGTGT
XM_011518048.2:c.5758-45_5758-44insGTGT	XP_011516350.1:n.5758-45_5758-44insGTGT
XM_011518049.2:c.4198-45_4198-44insGTGT	XP_011516351.1:n.4198-45_4198-44insGTGT
XM_017015173.1:c.5758-45_5758-44insGTGT	XP_016870662.1:n.5758-45_5758-44insGTGT
XM_017015174.1:c.5824-45_5824-44insGTGT	XP_016870663.1:n.5824-45_5824-44insGTGT
NM_001190458.2:c.5662-45_5662-44insGTGT	NP_001177387.1:n.5662-45_5662-44insGTGT
NM_001193536.2:c.5758-45_5758-44insGTGT	NP_001180465.1:n.5758-45_5758-44insGTGT
NM_203447.4:c.5962-45_5962-44insGTGT MANE Select	NP_982272.2:n.5962-45_5962-44insGTGT