Canonical Allele Identifier: CA187828999

Gene: DOCK8

Linked Data

• dbSNP Id: rs201353192
• gnomAD v2: 9-451871-GTA-G
• gnomAD v3: 9-451871-GTA-G
• gnomAD v4: 9-451871-GTA-G
• MyVariant Identifiers: chr9:g.451872_451873del (hg19) ; chr9:g.451872_451873del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.451882_451883del , CM000671.2:g.451882_451883del	GRCh38
NC_000009.11:g.451882_451883del , CM000671.1:g.451882_451883del	GRCh37
NC_000009.10:g.441882_441883del	NCBI36
NG_017007.1:g.242018_242019del , LRG_196:g.242018_242019del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5662-129_5662-128del	ENSP00000371766.2:n.5662-129_5662-128del
ENST00000683406.1:n.2437-129_2437-128del
ENST00000684637.1:n.1643-129_1643-128del
ENST00000685949.1:n.4750-129_4750-128del
ENST00000432829.7:c.5962-129_5962-128del MANE Select	ENSP00000394888.3:n.5962-129_5962-128del
ENST00000382329.1:c.4363-129_4363-128del	ENSP00000371766.1:n.4363-129_4363-128del
ENST00000432829.6:c.5962-129_5962-128del	ENSP00000394888.3:n.5962-129_5962-128del
ENST00000453981.5:c.5758-129_5758-128del	ENSP00000408464.2:n.5758-129_5758-128del
ENST00000469391.5:c.5662-129_5662-128del	ENSP00000419438.1:n.5662-129_5662-128del
ENST00000495184.5:n.7917-129_7917-128del
NM_001190458.1:c.5662-129_5662-128del	NP_001177387.1:n.5662-129_5662-128del
NM_001193536.1:c.5758-129_5758-128del	NP_001180465.1:n.5758-129_5758-128del
NM_203447.3:c.5962-129_5962-128del , LRG_196t1:c.5962-129_5962-128del	NP_982272.2:n.5962-129_5962-128del
XM_011518045.1:c.5662-129_5662-128del	XP_011516347.1:n.5662-129_5662-128del
XM_011518046.1:c.5824-129_5824-128del	XP_011516348.1:n.5824-129_5824-128del
XM_011518047.1:c.5758-129_5758-128del	XP_011516349.1:n.5758-129_5758-128del
XM_011518048.1:c.5758-129_5758-128del	XP_011516350.1:n.5758-129_5758-128del
XM_011518049.1:c.4198-129_4198-128del	XP_011516351.1:n.4198-129_4198-128del
XM_011518045.3:c.5662-129_5662-128del	XP_011516347.1:n.5662-129_5662-128del
XM_011518046.2:c.5824-129_5824-128del	XP_011516348.1:n.5824-129_5824-128del
XM_011518047.3:c.5758-129_5758-128del	XP_011516349.1:n.5758-129_5758-128del
XM_011518048.2:c.5758-129_5758-128del	XP_011516350.1:n.5758-129_5758-128del
XM_011518049.2:c.4198-129_4198-128del	XP_011516351.1:n.4198-129_4198-128del
XM_017015173.1:c.5758-129_5758-128del	XP_016870662.1:n.5758-129_5758-128del
XM_017015174.1:c.5824-129_5824-128del	XP_016870663.1:n.5824-129_5824-128del
NM_001190458.2:c.5662-129_5662-128del	NP_001177387.1:n.5662-129_5662-128del
NM_001193536.2:c.5758-129_5758-128del	NP_001180465.1:n.5758-129_5758-128del
NM_203447.4:c.5962-129_5962-128del MANE Select	NP_982272.2:n.5962-129_5962-128del