Canonical Allele Identifier: CA585888235

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 1219358
• ClinVar RCV Id: RCV001588447
• dbSNP Id: rs1269297855
• gnomAD v2: 9-451943-A-ATGTG
• gnomAD v3: 9-451943-A-ATGTG
• gnomAD v4: 9-451943-A-ATGTG
• MyVariant Identifiers: chr9:g.451953_451954insTGTG (hg19) ; chr9:g.451943_451944insTGTG (hg19) ; chr9:g.451953_451954insTGTG (hg38) ; chr9:g.451943_451944insTGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.451953_451956dup , CM000671.2:g.451953_451956dup	GRCh38
NC_000009.11:g.451953_451956dup , CM000671.1:g.451953_451956dup	GRCh37
NC_000009.10:g.441953_441956dup	NCBI36
NG_017007.1:g.242089_242092dup , LRG_196:g.242089_242092dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5662-58_5662-55dup	ENSP00000371766.2:n.5662-58_5662-55dup
ENST00000683406.1:n.2437-58_2437-55dup
ENST00000684637.1:n.1643-58_1643-55dup
ENST00000685949.1:n.4750-58_4750-55dup
ENST00000432829.7:c.5962-58_5962-55dup MANE Select	ENSP00000394888.3:n.5962-58_5962-55dup
ENST00000382329.1:c.4363-58_4363-55dup	ENSP00000371766.1:n.4363-58_4363-55dup
ENST00000432829.6:c.5962-58_5962-55dup	ENSP00000394888.3:n.5962-58_5962-55dup
ENST00000453981.5:c.5758-58_5758-55dup	ENSP00000408464.2:n.5758-58_5758-55dup
ENST00000469391.5:c.5662-58_5662-55dup	ENSP00000419438.1:n.5662-58_5662-55dup
ENST00000495184.5:n.7917-58_7917-55dup
NM_001190458.1:c.5662-58_5662-55dup	NP_001177387.1:n.5662-58_5662-55dup
NM_001193536.1:c.5758-58_5758-55dup	NP_001180465.1:n.5758-58_5758-55dup
NM_203447.3:c.5962-58_5962-55dup , LRG_196t1:c.5962-58_5962-55dup	NP_982272.2:n.5962-58_5962-55dup
XM_011518045.1:c.5662-58_5662-55dup	XP_011516347.1:n.5662-58_5662-55dup
XM_011518046.1:c.5824-58_5824-55dup	XP_011516348.1:n.5824-58_5824-55dup
XM_011518047.1:c.5758-58_5758-55dup	XP_011516349.1:n.5758-58_5758-55dup
XM_011518048.1:c.5758-58_5758-55dup	XP_011516350.1:n.5758-58_5758-55dup
XM_011518049.1:c.4198-58_4198-55dup	XP_011516351.1:n.4198-58_4198-55dup
XM_011518045.3:c.5662-58_5662-55dup	XP_011516347.1:n.5662-58_5662-55dup
XM_011518046.2:c.5824-58_5824-55dup	XP_011516348.1:n.5824-58_5824-55dup
XM_011518047.3:c.5758-58_5758-55dup	XP_011516349.1:n.5758-58_5758-55dup
XM_011518048.2:c.5758-58_5758-55dup	XP_011516350.1:n.5758-58_5758-55dup
XM_011518049.2:c.4198-58_4198-55dup	XP_011516351.1:n.4198-58_4198-55dup
XM_017015173.1:c.5758-58_5758-55dup	XP_016870662.1:n.5758-58_5758-55dup
XM_017015174.1:c.5824-58_5824-55dup	XP_016870663.1:n.5824-58_5824-55dup
NM_001190458.2:c.5662-58_5662-55dup	NP_001177387.1:n.5662-58_5662-55dup
NM_001193536.2:c.5758-58_5758-55dup	NP_001180465.1:n.5758-58_5758-55dup
NM_203447.4:c.5962-58_5962-55dup MANE Select	NP_982272.2:n.5962-58_5962-55dup