Canonical Allele Identifier: CA864781040
Gene: DOCK8 HGNC NCBI

Linked Data

dbSNP Id: rs1491184492
gnomAD v3: 9-451978-T-TA
gnomAD v4: 9-451978-T-TA

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.451978_451979insA , CM000671.2:g.451978_451979insA GRCh38
NC_000009.11:g.451978_451979insA , CM000671.1:g.451978_451979insA GRCh37
NC_000009.10:g.441978_441979insA NCBI36
NG_017007.1:g.242114_242115insA , LRG_196:g.242114_242115insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.5662-33_5662-32insA ENSP00000371766.2:n.5662-33_5662-32insA
ENST00000683406.1:n.2437-33_2437-32insA
ENST00000684637.1:n.1643-33_1643-32insA
ENST00000685949.1:n.4750-33_4750-32insA
ENST00000432829.7:c.5962-33_5962-32insA MANE Select ENSP00000394888.3:n.5962-33_5962-32insA
ENST00000382329.1:c.4363-33_4363-32insA ENSP00000371766.1:n.4363-33_4363-32insA
ENST00000432829.6:c.5962-33_5962-32insA ENSP00000394888.3:n.5962-33_5962-32insA
ENST00000453981.5:c.5758-33_5758-32insA ENSP00000408464.2:n.5758-33_5758-32insA
ENST00000469391.5:c.5662-33_5662-32insA ENSP00000419438.1:n.5662-33_5662-32insA
ENST00000495184.5:n.7917-33_7917-32insA
NM_001190458.1:c.5662-33_5662-32insA NP_001177387.1:n.5662-33_5662-32insA
NM_001193536.1:c.5758-33_5758-32insA NP_001180465.1:n.5758-33_5758-32insA
NM_203447.3:c.5962-33_5962-32insA , LRG_196t1:c.5962-33_5962-32insA NP_982272.2:n.5962-33_5962-32insA
XM_011518045.1:c.5662-33_5662-32insA XP_011516347.1:n.5662-33_5662-32insA
XM_011518046.1:c.5824-33_5824-32insA XP_011516348.1:n.5824-33_5824-32insA
XM_011518047.1:c.5758-33_5758-32insA XP_011516349.1:n.5758-33_5758-32insA
XM_011518048.1:c.5758-33_5758-32insA XP_011516350.1:n.5758-33_5758-32insA
XM_011518049.1:c.4198-33_4198-32insA XP_011516351.1:n.4198-33_4198-32insA
XM_011518045.3:c.5662-33_5662-32insA XP_011516347.1:n.5662-33_5662-32insA
XM_011518046.2:c.5824-33_5824-32insA XP_011516348.1:n.5824-33_5824-32insA
XM_011518047.3:c.5758-33_5758-32insA XP_011516349.1:n.5758-33_5758-32insA
XM_011518048.2:c.5758-33_5758-32insA XP_011516350.1:n.5758-33_5758-32insA
XM_011518049.2:c.4198-33_4198-32insA XP_011516351.1:n.4198-33_4198-32insA
XM_017015173.1:c.5758-33_5758-32insA XP_016870662.1:n.5758-33_5758-32insA
XM_017015174.1:c.5824-33_5824-32insA XP_016870663.1:n.5824-33_5824-32insA
NM_001190458.2:c.5662-33_5662-32insA NP_001177387.1:n.5662-33_5662-32insA
NM_001193536.2:c.5758-33_5758-32insA NP_001180465.1:n.5758-33_5758-32insA
NM_203447.4:c.5962-33_5962-32insA MANE Select NP_982272.2:n.5962-33_5962-32insA