Canonical Allele Identifier: CA585888182

Gene: DOCK8

Linked Data

• dbSNP Id: rs1474785074
• gnomAD v2: 9-451882-TAC-T
• gnomAD v3: 9-451882-TAC-T
• gnomAD v4: 9-451882-TAC-T
• MyVariant Identifiers: chr9:g.451883_451884del (hg19) ; chr9:g.451883_451884del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.451884_451885del , CM000671.2:g.451884_451885del	GRCh38
NC_000009.11:g.451884_451885del , CM000671.1:g.451884_451885del	GRCh37
NC_000009.10:g.441884_441885del	NCBI36
NG_017007.1:g.242020_242021del , LRG_196:g.242020_242021del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5662-127_5662-126del	ENSP00000371766.2:n.5662-127_5662-126del
ENST00000683406.1:n.2437-127_2437-126del
ENST00000684637.1:n.1643-127_1643-126del
ENST00000685949.1:n.4750-127_4750-126del
ENST00000432829.7:c.5962-127_5962-126del MANE Select	ENSP00000394888.3:n.5962-127_5962-126del
ENST00000382329.1:c.4363-127_4363-126del	ENSP00000371766.1:n.4363-127_4363-126del
ENST00000432829.6:c.5962-127_5962-126del	ENSP00000394888.3:n.5962-127_5962-126del
ENST00000453981.5:c.5758-127_5758-126del	ENSP00000408464.2:n.5758-127_5758-126del
ENST00000469391.5:c.5662-127_5662-126del	ENSP00000419438.1:n.5662-127_5662-126del
ENST00000495184.5:n.7917-127_7917-126del
NM_001190458.1:c.5662-127_5662-126del	NP_001177387.1:n.5662-127_5662-126del
NM_001193536.1:c.5758-127_5758-126del	NP_001180465.1:n.5758-127_5758-126del
NM_203447.3:c.5962-127_5962-126del , LRG_196t1:c.5962-127_5962-126del	NP_982272.2:n.5962-127_5962-126del
XM_011518045.1:c.5662-127_5662-126del	XP_011516347.1:n.5662-127_5662-126del
XM_011518046.1:c.5824-127_5824-126del	XP_011516348.1:n.5824-127_5824-126del
XM_011518047.1:c.5758-127_5758-126del	XP_011516349.1:n.5758-127_5758-126del
XM_011518048.1:c.5758-127_5758-126del	XP_011516350.1:n.5758-127_5758-126del
XM_011518049.1:c.4198-127_4198-126del	XP_011516351.1:n.4198-127_4198-126del
XM_011518045.3:c.5662-127_5662-126del	XP_011516347.1:n.5662-127_5662-126del
XM_011518046.2:c.5824-127_5824-126del	XP_011516348.1:n.5824-127_5824-126del
XM_011518047.3:c.5758-127_5758-126del	XP_011516349.1:n.5758-127_5758-126del
XM_011518048.2:c.5758-127_5758-126del	XP_011516350.1:n.5758-127_5758-126del
XM_011518049.2:c.4198-127_4198-126del	XP_011516351.1:n.4198-127_4198-126del
XM_017015173.1:c.5758-127_5758-126del	XP_016870662.1:n.5758-127_5758-126del
XM_017015174.1:c.5824-127_5824-126del	XP_016870663.1:n.5824-127_5824-126del
NM_001190458.2:c.5662-127_5662-126del	NP_001177387.1:n.5662-127_5662-126del
NM_001193536.2:c.5758-127_5758-126del	NP_001180465.1:n.5758-127_5758-126del
NM_203447.4:c.5962-127_5962-126del MANE Select	NP_982272.2:n.5962-127_5962-126del