Canonical Allele Identifier: CA1120385005

Gene: DOCK8

Linked Data

• dbSNP Id: rs2057457374
• gnomAD v3: 9-451917-A-ATATATG
• gnomAD v4: 9-451917-A-ATATATG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.451917_451918insTATATG , CM000671.2:g.451917_451918insTATATG	GRCh38
NC_000009.11:g.451917_451918insTATATG , CM000671.1:g.451917_451918insTATATG	GRCh37
NC_000009.10:g.441917_441918insTATATG	NCBI36
NG_017007.1:g.242053_242054insTATATG , LRG_196:g.242053_242054insTATATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5662-94_5662-93insTATATG	ENSP00000371766.2:n.5662-94_5662-93insTATATG
ENST00000683406.1:n.2437-94_2437-93insTATATG
ENST00000684637.1:n.1643-94_1643-93insTATATG
ENST00000685949.1:n.4750-94_4750-93insTATATG
ENST00000432829.7:c.5962-94_5962-93insTATATG MANE Select	ENSP00000394888.3:n.5962-94_5962-93insTATATG
ENST00000382329.1:c.4363-94_4363-93insTATATG	ENSP00000371766.1:n.4363-94_4363-93insTATATG
ENST00000432829.6:c.5962-94_5962-93insTATATG	ENSP00000394888.3:n.5962-94_5962-93insTATATG
ENST00000453981.5:c.5758-94_5758-93insTATATG	ENSP00000408464.2:n.5758-94_5758-93insTATATG
ENST00000469391.5:c.5662-94_5662-93insTATATG	ENSP00000419438.1:n.5662-94_5662-93insTATATG
ENST00000495184.5:n.7917-94_7917-93insTATATG
NM_001190458.1:c.5662-94_5662-93insTATATG	NP_001177387.1:n.5662-94_5662-93insTATATG
NM_001193536.1:c.5758-94_5758-93insTATATG	NP_001180465.1:n.5758-94_5758-93insTATATG
NM_203447.3:c.5962-94_5962-93insTATATG , LRG_196t1:c.5962-94_5962-93insTATATG	NP_982272.2:n.5962-94_5962-93insTATATG
XM_011518045.1:c.5662-94_5662-93insTATATG	XP_011516347.1:n.5662-94_5662-93insTATATG
XM_011518046.1:c.5824-94_5824-93insTATATG	XP_011516348.1:n.5824-94_5824-93insTATATG
XM_011518047.1:c.5758-94_5758-93insTATATG	XP_011516349.1:n.5758-94_5758-93insTATATG
XM_011518048.1:c.5758-94_5758-93insTATATG	XP_011516350.1:n.5758-94_5758-93insTATATG
XM_011518049.1:c.4198-94_4198-93insTATATG	XP_011516351.1:n.4198-94_4198-93insTATATG
XM_011518045.3:c.5662-94_5662-93insTATATG	XP_011516347.1:n.5662-94_5662-93insTATATG
XM_011518046.2:c.5824-94_5824-93insTATATG	XP_011516348.1:n.5824-94_5824-93insTATATG
XM_011518047.3:c.5758-94_5758-93insTATATG	XP_011516349.1:n.5758-94_5758-93insTATATG
XM_011518048.2:c.5758-94_5758-93insTATATG	XP_011516350.1:n.5758-94_5758-93insTATATG
XM_011518049.2:c.4198-94_4198-93insTATATG	XP_011516351.1:n.4198-94_4198-93insTATATG
XM_017015173.1:c.5758-94_5758-93insTATATG	XP_016870662.1:n.5758-94_5758-93insTATATG
XM_017015174.1:c.5824-94_5824-93insTATATG	XP_016870663.1:n.5824-94_5824-93insTATATG
NM_001190458.2:c.5662-94_5662-93insTATATG	NP_001177387.1:n.5662-94_5662-93insTATATG
NM_001193536.2:c.5758-94_5758-93insTATATG	NP_001180465.1:n.5758-94_5758-93insTATATG
NM_203447.4:c.5962-94_5962-93insTATATG MANE Select	NP_982272.2:n.5962-94_5962-93insTATATG