Canonical Allele Identifier: CA4959630

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 536611
• ClinVar RCV Id: RCV003432686 ; RCV003762851
• dbSNP Id: rs767478064
• ExAC: 9:451994 TTTTTTTTTC / T
• gnomAD v2: 9-451994-TTTTTTTTTC-T
• gnomAD v3: 9-451994-TTTTTTTTTC-T
• gnomAD v4: 9-451994-TTTTTTTTTC-T
• MyVariant Identifiers: chr9:g.451995_452003del (hg19) ; chr9:g.451995_452003del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.451995_452003del , CM000671.2:g.451995_452003del	GRCh38
NC_000009.11:g.451995_452003del , CM000671.1:g.451995_452003del	GRCh37
NC_000009.10:g.441995_442003del	NCBI36
NG_017007.1:g.242131_242139del , LRG_196:g.242131_242139del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382329.2:c.5662-16_5662-8del	ENSP00000371766.2:n.5662-16_5662-8del
ENST00000683406.1:n.2437-16_2437-8del
ENST00000684637.1:n.1643-16_1643-8del
ENST00000685949.1:n.4750-16_4750-8del
ENST00000432829.7:c.5962-16_5962-8del MANE Select	ENSP00000394888.3:n.5962-16_5962-8del
ENST00000382329.1:c.4363-16_4363-8del	ENSP00000371766.1:n.4363-16_4363-8del
ENST00000432829.6:c.5962-16_5962-8del	ENSP00000394888.3:n.5962-16_5962-8del
ENST00000453981.5:c.5758-16_5758-8del	ENSP00000408464.2:n.5758-16_5758-8del
ENST00000469391.5:c.5662-16_5662-8del	ENSP00000419438.1:n.5662-16_5662-8del
ENST00000495184.5:n.7917-16_7917-8del
NM_001190458.1:c.5662-16_5662-8del	NP_001177387.1:n.5662-16_5662-8del
NM_001193536.1:c.5758-16_5758-8del	NP_001180465.1:n.5758-16_5758-8del
NM_203447.3:c.5962-16_5962-8del , LRG_196t1:c.5962-16_5962-8del	NP_982272.2:n.5962-16_5962-8del
XM_011518045.1:c.5662-16_5662-8del	XP_011516347.1:n.5662-16_5662-8del
XM_011518046.1:c.5824-16_5824-8del	XP_011516348.1:n.5824-16_5824-8del
XM_011518047.1:c.5758-16_5758-8del	XP_011516349.1:n.5758-16_5758-8del
XM_011518048.1:c.5758-16_5758-8del	XP_011516350.1:n.5758-16_5758-8del
XM_011518049.1:c.4198-16_4198-8del	XP_011516351.1:n.4198-16_4198-8del
XM_011518045.3:c.5662-16_5662-8del	XP_011516347.1:n.5662-16_5662-8del
XM_011518046.2:c.5824-16_5824-8del	XP_011516348.1:n.5824-16_5824-8del
XM_011518047.3:c.5758-16_5758-8del	XP_011516349.1:n.5758-16_5758-8del
XM_011518048.2:c.5758-16_5758-8del	XP_011516350.1:n.5758-16_5758-8del
XM_011518049.2:c.4198-16_4198-8del	XP_011516351.1:n.4198-16_4198-8del
XM_017015173.1:c.5758-16_5758-8del	XP_016870662.1:n.5758-16_5758-8del
XM_017015174.1:c.5824-16_5824-8del	XP_016870663.1:n.5824-16_5824-8del
NM_001190458.2:c.5662-16_5662-8del	NP_001177387.1:n.5662-16_5662-8del
NM_001193536.2:c.5758-16_5758-8del	NP_001180465.1:n.5758-16_5758-8del
NM_203447.4:c.5962-16_5962-8del MANE Select	NP_982272.2:n.5962-16_5962-8del