Canonical Allele Identifier: CA1120384816

Gene: DOCK8

Linked Data

• dbSNP Id: rs2057445289
• gnomAD v3: 9-451787-AAACT-A
• gnomAD v4: 9-451787-AAACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.451790_451793del , CM000671.2:g.451790_451793del	GRCh38
NC_000009.11:g.451790_451793del , CM000671.1:g.451790_451793del	GRCh37
NC_000009.10:g.441790_441793del	NCBI36
NG_017007.1:g.241926_241929del , LRG_196:g.241926_241929del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5662-221_5662-218del	ENSP00000371766.2:n.5662-221_5662-218del
ENST00000683406.1:n.2437-221_2437-218del
ENST00000684637.1:n.1643-221_1643-218del
ENST00000685949.1:n.4750-221_4750-218del
ENST00000432829.7:c.5962-221_5962-218del MANE Select	ENSP00000394888.3:n.5962-221_5962-218del
ENST00000382329.1:c.4363-221_4363-218del	ENSP00000371766.1:n.4363-221_4363-218del
ENST00000432829.6:c.5962-221_5962-218del	ENSP00000394888.3:n.5962-221_5962-218del
ENST00000453981.5:c.5758-221_5758-218del	ENSP00000408464.2:n.5758-221_5758-218del
ENST00000469391.5:c.5662-221_5662-218del	ENSP00000419438.1:n.5662-221_5662-218del
ENST00000495184.5:n.7917-221_7917-218del
NM_001190458.1:c.5662-221_5662-218del	NP_001177387.1:n.5662-221_5662-218del
NM_001193536.1:c.5758-221_5758-218del	NP_001180465.1:n.5758-221_5758-218del
NM_203447.3:c.5962-221_5962-218del , LRG_196t1:c.5962-221_5962-218del	NP_982272.2:n.5962-221_5962-218del
XM_011518045.1:c.5662-221_5662-218del	XP_011516347.1:n.5662-221_5662-218del
XM_011518046.1:c.5824-221_5824-218del	XP_011516348.1:n.5824-221_5824-218del
XM_011518047.1:c.5758-221_5758-218del	XP_011516349.1:n.5758-221_5758-218del
XM_011518048.1:c.5758-221_5758-218del	XP_011516350.1:n.5758-221_5758-218del
XM_011518049.1:c.4198-221_4198-218del	XP_011516351.1:n.4198-221_4198-218del
XM_011518045.3:c.5662-221_5662-218del	XP_011516347.1:n.5662-221_5662-218del
XM_011518046.2:c.5824-221_5824-218del	XP_011516348.1:n.5824-221_5824-218del
XM_011518047.3:c.5758-221_5758-218del	XP_011516349.1:n.5758-221_5758-218del
XM_011518048.2:c.5758-221_5758-218del	XP_011516350.1:n.5758-221_5758-218del
XM_011518049.2:c.4198-221_4198-218del	XP_011516351.1:n.4198-221_4198-218del
XM_017015173.1:c.5758-221_5758-218del	XP_016870662.1:n.5758-221_5758-218del
XM_017015174.1:c.5824-221_5824-218del	XP_016870663.1:n.5824-221_5824-218del
NM_001190458.2:c.5662-221_5662-218del	NP_001177387.1:n.5662-221_5662-218del
NM_001193536.2:c.5758-221_5758-218del	NP_001180465.1:n.5758-221_5758-218del
NM_203447.4:c.5962-221_5962-218del MANE Select	NP_982272.2:n.5962-221_5962-218del