Canonical Allele Identifier: CA4959596

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 445540
• ClinVar RCV Id: RCV000513841 ; RCV003762758
• dbSNP Id: rs771454295
• ExAC: 9:451971 ATATATATTTTTTTTTTTTTTTT / A
• gnomAD v2: 9-451971-ATATATATTTTTTTTTTTTTTTT-A
• gnomAD v3: 9-451971-ATATATATTTTTTTTTTTTTTTT-A
• gnomAD v4: 9-451971-ATATATATTTTTTTTTTTTTTTT-A
• MyVariant Identifiers: chr9:g.451972_451993del (hg19) ; chr9:g.451972_451993del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.451973_451994del , CM000671.2:g.451973_451994del	GRCh38
NC_000009.11:g.451973_451994del , CM000671.1:g.451973_451994del	GRCh37
NC_000009.10:g.441973_441994del	NCBI36
NG_017007.1:g.242109_242130del , LRG_196:g.242109_242130del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5662-38_5662-17del	ENSP00000371766.2:n.5662-38_5662-17del
ENST00000683406.1:n.2437-38_2437-17del
ENST00000684637.1:n.1643-38_1643-17del
ENST00000685949.1:n.4750-38_4750-17del
ENST00000432829.7:c.5962-38_5962-17del MANE Select	ENSP00000394888.3:n.5962-38_5962-17del
ENST00000382329.1:c.4363-38_4363-17del	ENSP00000371766.1:n.4363-38_4363-17del
ENST00000432829.6:c.5962-38_5962-17del	ENSP00000394888.3:n.5962-38_5962-17del
ENST00000453981.5:c.5758-38_5758-17del	ENSP00000408464.2:n.5758-38_5758-17del
ENST00000469391.5:c.5662-38_5662-17del	ENSP00000419438.1:n.5662-38_5662-17del
ENST00000495184.5:n.7917-38_7917-17del
NM_001190458.1:c.5662-38_5662-17del	NP_001177387.1:n.5662-38_5662-17del
NM_001193536.1:c.5758-38_5758-17del	NP_001180465.1:n.5758-38_5758-17del
NM_203447.3:c.5962-38_5962-17del , LRG_196t1:c.5962-38_5962-17del	NP_982272.2:n.5962-38_5962-17del
XM_011518045.1:c.5662-38_5662-17del	XP_011516347.1:n.5662-38_5662-17del
XM_011518046.1:c.5824-38_5824-17del	XP_011516348.1:n.5824-38_5824-17del
XM_011518047.1:c.5758-38_5758-17del	XP_011516349.1:n.5758-38_5758-17del
XM_011518048.1:c.5758-38_5758-17del	XP_011516350.1:n.5758-38_5758-17del
XM_011518049.1:c.4198-38_4198-17del	XP_011516351.1:n.4198-38_4198-17del
XM_011518045.3:c.5662-38_5662-17del	XP_011516347.1:n.5662-38_5662-17del
XM_011518046.2:c.5824-38_5824-17del	XP_011516348.1:n.5824-38_5824-17del
XM_011518047.3:c.5758-38_5758-17del	XP_011516349.1:n.5758-38_5758-17del
XM_011518048.2:c.5758-38_5758-17del	XP_011516350.1:n.5758-38_5758-17del
XM_011518049.2:c.4198-38_4198-17del	XP_011516351.1:n.4198-38_4198-17del
XM_017015173.1:c.5758-38_5758-17del	XP_016870662.1:n.5758-38_5758-17del
XM_017015174.1:c.5824-38_5824-17del	XP_016870663.1:n.5824-38_5824-17del
NM_001190458.2:c.5662-38_5662-17del	NP_001177387.1:n.5662-38_5662-17del
NM_001193536.2:c.5758-38_5758-17del	NP_001180465.1:n.5758-38_5758-17del
NM_203447.4:c.5962-38_5962-17del MANE Select	NP_982272.2:n.5962-38_5962-17del