Canonical Allele Identifier: CA585888172
Gene: DOCK8 HGNC NCBI

Linked Data

dbSNP Id: rs1255233420
gnomAD v2: 9-451863-A-ATG
gnomAD v3: 9-451863-A-ATG
gnomAD v4: 9-451863-A-ATG

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.451871_451872dup , CM000671.2:g.451871_451872dup GRCh38
NC_000009.11:g.451871_451872dup , CM000671.1:g.451871_451872dup GRCh37
NC_000009.10:g.441871_441872dup NCBI36
NG_017007.1:g.242007_242008dup , LRG_196:g.242007_242008dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.5662-140_5662-139dup ENSP00000371766.2:n.5662-140_5662-139dup
ENST00000683406.1:n.2437-140_2437-139dup
ENST00000684637.1:n.1643-140_1643-139dup
ENST00000685949.1:n.4750-140_4750-139dup
ENST00000432829.7:c.5962-140_5962-139dup MANE Select ENSP00000394888.3:n.5962-140_5962-139dup
ENST00000382329.1:c.4363-140_4363-139dup ENSP00000371766.1:n.4363-140_4363-139dup
ENST00000432829.6:c.5962-140_5962-139dup ENSP00000394888.3:n.5962-140_5962-139dup
ENST00000453981.5:c.5758-140_5758-139dup ENSP00000408464.2:n.5758-140_5758-139dup
ENST00000469391.5:c.5662-140_5662-139dup ENSP00000419438.1:n.5662-140_5662-139dup
ENST00000495184.5:n.7917-140_7917-139dup
NM_001190458.1:c.5662-140_5662-139dup NP_001177387.1:n.5662-140_5662-139dup
NM_001193536.1:c.5758-140_5758-139dup NP_001180465.1:n.5758-140_5758-139dup
NM_203447.3:c.5962-140_5962-139dup , LRG_196t1:c.5962-140_5962-139dup NP_982272.2:n.5962-140_5962-139dup
XM_011518045.1:c.5662-140_5662-139dup XP_011516347.1:n.5662-140_5662-139dup
XM_011518046.1:c.5824-140_5824-139dup XP_011516348.1:n.5824-140_5824-139dup
XM_011518047.1:c.5758-140_5758-139dup XP_011516349.1:n.5758-140_5758-139dup
XM_011518048.1:c.5758-140_5758-139dup XP_011516350.1:n.5758-140_5758-139dup
XM_011518049.1:c.4198-140_4198-139dup XP_011516351.1:n.4198-140_4198-139dup
XM_011518045.3:c.5662-140_5662-139dup XP_011516347.1:n.5662-140_5662-139dup
XM_011518046.2:c.5824-140_5824-139dup XP_011516348.1:n.5824-140_5824-139dup
XM_011518047.3:c.5758-140_5758-139dup XP_011516349.1:n.5758-140_5758-139dup
XM_011518048.2:c.5758-140_5758-139dup XP_011516350.1:n.5758-140_5758-139dup
XM_011518049.2:c.4198-140_4198-139dup XP_011516351.1:n.4198-140_4198-139dup
XM_017015173.1:c.5758-140_5758-139dup XP_016870662.1:n.5758-140_5758-139dup
XM_017015174.1:c.5824-140_5824-139dup XP_016870663.1:n.5824-140_5824-139dup
NM_001190458.2:c.5662-140_5662-139dup NP_001177387.1:n.5662-140_5662-139dup
NM_001193536.2:c.5758-140_5758-139dup NP_001180465.1:n.5758-140_5758-139dup
NM_203447.4:c.5962-140_5962-139dup MANE Select NP_982272.2:n.5962-140_5962-139dup