Canonical Allele Identifier: CA2689211474
Gene: DOCK8 HGNC NCBI

Linked Data

gnomAD v4: 9-451949-G-GTA

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.451950_451951insAT , CM000671.2:g.451950_451951insAT GRCh38
NC_000009.11:g.451950_451951insAT , CM000671.1:g.451950_451951insAT GRCh37
NC_000009.10:g.441950_441951insAT NCBI36
NG_017007.1:g.242086_242087insAT , LRG_196:g.242086_242087insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.5662-61_5662-60insAT ENSP00000371766.2:n.5662-61_5662-60insAT
ENST00000683406.1:n.2437-61_2437-60insAT
ENST00000684637.1:n.1643-61_1643-60insAT
ENST00000685949.1:n.4750-61_4750-60insAT
ENST00000432829.7:c.5962-61_5962-60insAT MANE Select ENSP00000394888.3:n.5962-61_5962-60insAT
ENST00000382329.1:c.4363-61_4363-60insAT ENSP00000371766.1:n.4363-61_4363-60insAT
ENST00000432829.6:c.5962-61_5962-60insAT ENSP00000394888.3:n.5962-61_5962-60insAT
ENST00000453981.5:c.5758-61_5758-60insAT ENSP00000408464.2:n.5758-61_5758-60insAT
ENST00000469391.5:c.5662-61_5662-60insAT ENSP00000419438.1:n.5662-61_5662-60insAT
ENST00000495184.5:n.7917-61_7917-60insAT
NM_001190458.1:c.5662-61_5662-60insAT NP_001177387.1:n.5662-61_5662-60insAT
NM_001193536.1:c.5758-61_5758-60insAT NP_001180465.1:n.5758-61_5758-60insAT
NM_203447.3:c.5962-61_5962-60insAT , LRG_196t1:c.5962-61_5962-60insAT NP_982272.2:n.5962-61_5962-60insAT
XM_011518045.1:c.5662-61_5662-60insAT XP_011516347.1:n.5662-61_5662-60insAT
XM_011518046.1:c.5824-61_5824-60insAT XP_011516348.1:n.5824-61_5824-60insAT
XM_011518047.1:c.5758-61_5758-60insAT XP_011516349.1:n.5758-61_5758-60insAT
XM_011518048.1:c.5758-61_5758-60insAT XP_011516350.1:n.5758-61_5758-60insAT
XM_011518049.1:c.4198-61_4198-60insAT XP_011516351.1:n.4198-61_4198-60insAT
XM_011518045.3:c.5662-61_5662-60insAT XP_011516347.1:n.5662-61_5662-60insAT
XM_011518046.2:c.5824-61_5824-60insAT XP_011516348.1:n.5824-61_5824-60insAT
XM_011518047.3:c.5758-61_5758-60insAT XP_011516349.1:n.5758-61_5758-60insAT
XM_011518048.2:c.5758-61_5758-60insAT XP_011516350.1:n.5758-61_5758-60insAT
XM_011518049.2:c.4198-61_4198-60insAT XP_011516351.1:n.4198-61_4198-60insAT
XM_017015173.1:c.5758-61_5758-60insAT XP_016870662.1:n.5758-61_5758-60insAT
XM_017015174.1:c.5824-61_5824-60insAT XP_016870663.1:n.5824-61_5824-60insAT
NM_001190458.2:c.5662-61_5662-60insAT NP_001177387.1:n.5662-61_5662-60insAT
NM_001193536.2:c.5758-61_5758-60insAT NP_001180465.1:n.5758-61_5758-60insAT
NM_203447.4:c.5962-61_5962-60insAT MANE Select NP_982272.2:n.5962-61_5962-60insAT