Canonical Allele Identifier: CA585888295

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 1205604
• ClinVar RCV Id: RCV001572315
• dbSNP Id: rs1188943565
• gnomAD v2: 9-451973-ATATATTTTTT-A
• gnomAD v3: 9-451973-ATATATTTTTT-A
• gnomAD v4: 9-451973-ATATATTTTTT-A
• MyVariant Identifiers: chr9:g.451974_451983del (hg19) ; chr9:g.451975_451991delinsTTTTTTT (hg19) ; chr9:g.451974_451983del (hg38) ; chr9:g.451975_451991delinsTTTTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.451975_451984del , CM000671.2:g.451975_451984del	GRCh38
NC_000009.11:g.451975_451984del , CM000671.1:g.451975_451984del	GRCh37
NC_000009.10:g.441975_441984del	NCBI36
NG_017007.1:g.242111_242120del , LRG_196:g.242111_242120del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5662-36_5662-27del	ENSP00000371766.2:n.5662-36_5662-27del
ENST00000683406.1:n.2437-36_2437-27del
ENST00000684637.1:n.1643-36_1643-27del
ENST00000685949.1:n.4750-36_4750-27del
ENST00000432829.7:c.5962-36_5962-27del MANE Select	ENSP00000394888.3:n.5962-36_5962-27del
ENST00000382329.1:c.4363-36_4363-27del	ENSP00000371766.1:n.4363-36_4363-27del
ENST00000432829.6:c.5962-36_5962-27del	ENSP00000394888.3:n.5962-36_5962-27del
ENST00000453981.5:c.5758-36_5758-27del	ENSP00000408464.2:n.5758-36_5758-27del
ENST00000469391.5:c.5662-36_5662-27del	ENSP00000419438.1:n.5662-36_5662-27del
ENST00000495184.5:n.7917-36_7917-27del
NM_001190458.1:c.5662-36_5662-27del	NP_001177387.1:n.5662-36_5662-27del
NM_001193536.1:c.5758-36_5758-27del	NP_001180465.1:n.5758-36_5758-27del
NM_203447.3:c.5962-36_5962-27del , LRG_196t1:c.5962-36_5962-27del	NP_982272.2:n.5962-36_5962-27del
XM_011518045.1:c.5662-36_5662-27del	XP_011516347.1:n.5662-36_5662-27del
XM_011518046.1:c.5824-36_5824-27del	XP_011516348.1:n.5824-36_5824-27del
XM_011518047.1:c.5758-36_5758-27del	XP_011516349.1:n.5758-36_5758-27del
XM_011518048.1:c.5758-36_5758-27del	XP_011516350.1:n.5758-36_5758-27del
XM_011518049.1:c.4198-36_4198-27del	XP_011516351.1:n.4198-36_4198-27del
XM_011518045.3:c.5662-36_5662-27del	XP_011516347.1:n.5662-36_5662-27del
XM_011518046.2:c.5824-36_5824-27del	XP_011516348.1:n.5824-36_5824-27del
XM_011518047.3:c.5758-36_5758-27del	XP_011516349.1:n.5758-36_5758-27del
XM_011518048.2:c.5758-36_5758-27del	XP_011516350.1:n.5758-36_5758-27del
XM_011518049.2:c.4198-36_4198-27del	XP_011516351.1:n.4198-36_4198-27del
XM_017015173.1:c.5758-36_5758-27del	XP_016870662.1:n.5758-36_5758-27del
XM_017015174.1:c.5824-36_5824-27del	XP_016870663.1:n.5824-36_5824-27del
NM_001190458.2:c.5662-36_5662-27del	NP_001177387.1:n.5662-36_5662-27del
NM_001193536.2:c.5758-36_5758-27del	NP_001180465.1:n.5758-36_5758-27del
NM_203447.4:c.5962-36_5962-27del MANE Select	NP_982272.2:n.5962-36_5962-27del