Canonical Allele Identifier: CA1120385578

Gene: DOCK8

Linked Data

• dbSNP Id: rs2057477219
• gnomAD v3: 9-451990-T-TC
• gnomAD v4: 9-451990-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.451990_451991insC , CM000671.2:g.451990_451991insC	GRCh38
NC_000009.11:g.451990_451991insC , CM000671.1:g.451990_451991insC	GRCh37
NC_000009.10:g.441990_441991insC	NCBI36
NG_017007.1:g.242126_242127insC , LRG_196:g.242126_242127insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5662-21_5662-20insC	ENSP00000371766.2:n.5662-21_5662-20insC
ENST00000683406.1:n.2437-21_2437-20insC
ENST00000684637.1:n.1643-21_1643-20insC
ENST00000685949.1:n.4750-21_4750-20insC
ENST00000432829.7:c.5962-21_5962-20insC MANE Select	ENSP00000394888.3:n.5962-21_5962-20insC
ENST00000382329.1:c.4363-21_4363-20insC	ENSP00000371766.1:n.4363-21_4363-20insC
ENST00000432829.6:c.5962-21_5962-20insC	ENSP00000394888.3:n.5962-21_5962-20insC
ENST00000453981.5:c.5758-21_5758-20insC	ENSP00000408464.2:n.5758-21_5758-20insC
ENST00000469391.5:c.5662-21_5662-20insC	ENSP00000419438.1:n.5662-21_5662-20insC
ENST00000495184.5:n.7917-21_7917-20insC
NM_001190458.1:c.5662-21_5662-20insC	NP_001177387.1:n.5662-21_5662-20insC
NM_001193536.1:c.5758-21_5758-20insC	NP_001180465.1:n.5758-21_5758-20insC
NM_203447.3:c.5962-21_5962-20insC , LRG_196t1:c.5962-21_5962-20insC	NP_982272.2:n.5962-21_5962-20insC
XM_011518045.1:c.5662-21_5662-20insC	XP_011516347.1:n.5662-21_5662-20insC
XM_011518046.1:c.5824-21_5824-20insC	XP_011516348.1:n.5824-21_5824-20insC
XM_011518047.1:c.5758-21_5758-20insC	XP_011516349.1:n.5758-21_5758-20insC
XM_011518048.1:c.5758-21_5758-20insC	XP_011516350.1:n.5758-21_5758-20insC
XM_011518049.1:c.4198-21_4198-20insC	XP_011516351.1:n.4198-21_4198-20insC
XM_011518045.3:c.5662-21_5662-20insC	XP_011516347.1:n.5662-21_5662-20insC
XM_011518046.2:c.5824-21_5824-20insC	XP_011516348.1:n.5824-21_5824-20insC
XM_011518047.3:c.5758-21_5758-20insC	XP_011516349.1:n.5758-21_5758-20insC
XM_011518048.2:c.5758-21_5758-20insC	XP_011516350.1:n.5758-21_5758-20insC
XM_011518049.2:c.4198-21_4198-20insC	XP_011516351.1:n.4198-21_4198-20insC
XM_017015173.1:c.5758-21_5758-20insC	XP_016870662.1:n.5758-21_5758-20insC
XM_017015174.1:c.5824-21_5824-20insC	XP_016870663.1:n.5824-21_5824-20insC
NM_001190458.2:c.5662-21_5662-20insC	NP_001177387.1:n.5662-21_5662-20insC
NM_001193536.2:c.5758-21_5758-20insC	NP_001180465.1:n.5758-21_5758-20insC
NM_203447.4:c.5962-21_5962-20insC MANE Select	NP_982272.2:n.5962-21_5962-20insC