Canonical Allele Identifier: CA1120385268

Gene: DOCK8

Linked Data

• gnomAD v3: 9-451963-A-ATGTG
• gnomAD v4: 9-451963-A-ATGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.451964_451965insGTGT , CM000671.2:g.451964_451965insGTGT	GRCh38
NC_000009.11:g.451964_451965insGTGT , CM000671.1:g.451964_451965insGTGT	GRCh37
NC_000009.10:g.441964_441965insGTGT	NCBI36
NG_017007.1:g.242100_242101insGTGT , LRG_196:g.242100_242101insGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5662-47_5662-46insGTGT	ENSP00000371766.2:n.5662-47_5662-46insGTGT
ENST00000683406.1:n.2437-47_2437-46insGTGT
ENST00000684637.1:n.1643-47_1643-46insGTGT
ENST00000685949.1:n.4750-47_4750-46insGTGT
ENST00000432829.7:c.5962-47_5962-46insGTGT MANE Select	ENSP00000394888.3:n.5962-47_5962-46insGTGT
ENST00000382329.1:c.4363-47_4363-46insGTGT	ENSP00000371766.1:n.4363-47_4363-46insGTGT
ENST00000432829.6:c.5962-47_5962-46insGTGT	ENSP00000394888.3:n.5962-47_5962-46insGTGT
ENST00000453981.5:c.5758-47_5758-46insGTGT	ENSP00000408464.2:n.5758-47_5758-46insGTGT
ENST00000469391.5:c.5662-47_5662-46insGTGT	ENSP00000419438.1:n.5662-47_5662-46insGTGT
ENST00000495184.5:n.7917-47_7917-46insGTGT
NM_001190458.1:c.5662-47_5662-46insGTGT	NP_001177387.1:n.5662-47_5662-46insGTGT
NM_001193536.1:c.5758-47_5758-46insGTGT	NP_001180465.1:n.5758-47_5758-46insGTGT
NM_203447.3:c.5962-47_5962-46insGTGT , LRG_196t1:c.5962-47_5962-46insGTGT	NP_982272.2:n.5962-47_5962-46insGTGT
XM_011518045.1:c.5662-47_5662-46insGTGT	XP_011516347.1:n.5662-47_5662-46insGTGT
XM_011518046.1:c.5824-47_5824-46insGTGT	XP_011516348.1:n.5824-47_5824-46insGTGT
XM_011518047.1:c.5758-47_5758-46insGTGT	XP_011516349.1:n.5758-47_5758-46insGTGT
XM_011518048.1:c.5758-47_5758-46insGTGT	XP_011516350.1:n.5758-47_5758-46insGTGT
XM_011518049.1:c.4198-47_4198-46insGTGT	XP_011516351.1:n.4198-47_4198-46insGTGT
XM_011518045.3:c.5662-47_5662-46insGTGT	XP_011516347.1:n.5662-47_5662-46insGTGT
XM_011518046.2:c.5824-47_5824-46insGTGT	XP_011516348.1:n.5824-47_5824-46insGTGT
XM_011518047.3:c.5758-47_5758-46insGTGT	XP_011516349.1:n.5758-47_5758-46insGTGT
XM_011518048.2:c.5758-47_5758-46insGTGT	XP_011516350.1:n.5758-47_5758-46insGTGT
XM_011518049.2:c.4198-47_4198-46insGTGT	XP_011516351.1:n.4198-47_4198-46insGTGT
XM_017015173.1:c.5758-47_5758-46insGTGT	XP_016870662.1:n.5758-47_5758-46insGTGT
XM_017015174.1:c.5824-47_5824-46insGTGT	XP_016870663.1:n.5824-47_5824-46insGTGT
NM_001190458.2:c.5662-47_5662-46insGTGT	NP_001177387.1:n.5662-47_5662-46insGTGT
NM_001193536.2:c.5758-47_5758-46insGTGT	NP_001180465.1:n.5758-47_5758-46insGTGT
NM_203447.4:c.5962-47_5962-46insGTGT MANE Select	NP_982272.2:n.5962-47_5962-46insGTGT