Canonical Allele Identifier: CA2689211652
Gene: DOCK8 HGNC NCBI

Linked Data

gnomAD v4: 9-452166-G-GAT

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.452166_452167insAT , CM000671.2:g.452166_452167insAT GRCh38
NC_000009.11:g.452166_452167insAT , CM000671.1:g.452166_452167insAT GRCh37
NC_000009.10:g.442166_442167insAT NCBI36
NG_017007.1:g.242302_242303insAT , LRG_196:g.242302_242303insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.5768+49_5768+50insAT ENSP00000371766.2:n.5768+49_5768+50insAT
ENST00000683406.1:n.2543+49_2543+50insAT
ENST00000684637.1:n.1749+49_1749+50insAT
ENST00000685949.1:n.4856+49_4856+50insAT
ENST00000432829.7:c.6068+49_6068+50insAT MANE Select ENSP00000394888.3:n.6068+49_6068+50insAT
ENST00000382329.1:c.4469+49_4469+50insAT ENSP00000371766.1:n.4469+49_4469+50insAT
ENST00000432829.6:c.6068+49_6068+50insAT ENSP00000394888.3:n.6068+49_6068+50insAT
ENST00000453981.5:c.5864+49_5864+50insAT ENSP00000408464.2:n.5864+49_5864+50insAT
ENST00000469391.5:c.5768+49_5768+50insAT ENSP00000419438.1:n.5768+49_5768+50insAT
ENST00000495184.5:n.8023+49_8023+50insAT
NM_001190458.1:c.5768+49_5768+50insAT NP_001177387.1:n.5768+49_5768+50insAT
NM_001193536.1:c.5864+49_5864+50insAT NP_001180465.1:n.5864+49_5864+50insAT
NM_203447.3:c.6068+49_6068+50insAT , LRG_196t1:c.6068+49_6068+50insAT NP_982272.2:n.6068+49_6068+50insAT
XM_011518045.1:c.5768+49_5768+50insAT XP_011516347.1:n.5768+49_5768+50insAT
XM_011518046.1:c.5930+49_5930+50insAT XP_011516348.1:n.5930+49_5930+50insAT
XM_011518047.1:c.5864+49_5864+50insAT XP_011516349.1:n.5864+49_5864+50insAT
XM_011518048.1:c.5864+49_5864+50insAT XP_011516350.1:n.5864+49_5864+50insAT
XM_011518049.1:c.4304+49_4304+50insAT XP_011516351.1:n.4304+49_4304+50insAT
XM_011518045.3:c.5768+49_5768+50insAT XP_011516347.1:n.5768+49_5768+50insAT
XM_011518046.2:c.5930+49_5930+50insAT XP_011516348.1:n.5930+49_5930+50insAT
XM_011518047.3:c.5864+49_5864+50insAT XP_011516349.1:n.5864+49_5864+50insAT
XM_011518048.2:c.5864+49_5864+50insAT XP_011516350.1:n.5864+49_5864+50insAT
XM_011518049.2:c.4304+49_4304+50insAT XP_011516351.1:n.4304+49_4304+50insAT
XM_017015173.1:c.5864+49_5864+50insAT XP_016870662.1:n.5864+49_5864+50insAT
XM_017015174.1:c.5930+49_5930+50insAT XP_016870663.1:n.5930+49_5930+50insAT
NM_001190458.2:c.5768+49_5768+50insAT NP_001177387.1:n.5768+49_5768+50insAT
NM_001193536.2:c.5864+49_5864+50insAT NP_001180465.1:n.5864+49_5864+50insAT
NM_203447.4:c.6068+49_6068+50insAT MANE Select NP_982272.2:n.6068+49_6068+50insAT