Canonical Allele Identifier: CA2689211485
Gene: DOCK8 HGNC NCBI

Linked Data

gnomAD v4: 9-451954-T-TGA

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.451955_451956insAG , CM000671.2:g.451955_451956insAG GRCh38
NC_000009.11:g.451955_451956insAG , CM000671.1:g.451955_451956insAG GRCh37
NC_000009.10:g.441955_441956insAG NCBI36
NG_017007.1:g.242091_242092insAG , LRG_196:g.242091_242092insAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.5662-56_5662-55insAG ENSP00000371766.2:n.5662-56_5662-55insAG
ENST00000683406.1:n.2437-56_2437-55insAG
ENST00000684637.1:n.1643-56_1643-55insAG
ENST00000685949.1:n.4750-56_4750-55insAG
ENST00000432829.7:c.5962-56_5962-55insAG MANE Select ENSP00000394888.3:n.5962-56_5962-55insAG
ENST00000382329.1:c.4363-56_4363-55insAG ENSP00000371766.1:n.4363-56_4363-55insAG
ENST00000432829.6:c.5962-56_5962-55insAG ENSP00000394888.3:n.5962-56_5962-55insAG
ENST00000453981.5:c.5758-56_5758-55insAG ENSP00000408464.2:n.5758-56_5758-55insAG
ENST00000469391.5:c.5662-56_5662-55insAG ENSP00000419438.1:n.5662-56_5662-55insAG
ENST00000495184.5:n.7917-56_7917-55insAG
NM_001190458.1:c.5662-56_5662-55insAG NP_001177387.1:n.5662-56_5662-55insAG
NM_001193536.1:c.5758-56_5758-55insAG NP_001180465.1:n.5758-56_5758-55insAG
NM_203447.3:c.5962-56_5962-55insAG , LRG_196t1:c.5962-56_5962-55insAG NP_982272.2:n.5962-56_5962-55insAG
XM_011518045.1:c.5662-56_5662-55insAG XP_011516347.1:n.5662-56_5662-55insAG
XM_011518046.1:c.5824-56_5824-55insAG XP_011516348.1:n.5824-56_5824-55insAG
XM_011518047.1:c.5758-56_5758-55insAG XP_011516349.1:n.5758-56_5758-55insAG
XM_011518048.1:c.5758-56_5758-55insAG XP_011516350.1:n.5758-56_5758-55insAG
XM_011518049.1:c.4198-56_4198-55insAG XP_011516351.1:n.4198-56_4198-55insAG
XM_011518045.3:c.5662-56_5662-55insAG XP_011516347.1:n.5662-56_5662-55insAG
XM_011518046.2:c.5824-56_5824-55insAG XP_011516348.1:n.5824-56_5824-55insAG
XM_011518047.3:c.5758-56_5758-55insAG XP_011516349.1:n.5758-56_5758-55insAG
XM_011518048.2:c.5758-56_5758-55insAG XP_011516350.1:n.5758-56_5758-55insAG
XM_011518049.2:c.4198-56_4198-55insAG XP_011516351.1:n.4198-56_4198-55insAG
XM_017015173.1:c.5758-56_5758-55insAG XP_016870662.1:n.5758-56_5758-55insAG
XM_017015174.1:c.5824-56_5824-55insAG XP_016870663.1:n.5824-56_5824-55insAG
NM_001190458.2:c.5662-56_5662-55insAG NP_001177387.1:n.5662-56_5662-55insAG
NM_001193536.2:c.5758-56_5758-55insAG NP_001180465.1:n.5758-56_5758-55insAG
NM_203447.4:c.5962-56_5962-55insAG MANE Select NP_982272.2:n.5962-56_5962-55insAG