Canonical Allele Identifier: CA2689211702
Gene: DOCK8 HGNC NCBI

Linked Data

gnomAD v4: 9-452215-A-AC

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.452215_452216insC , CM000671.2:g.452215_452216insC GRCh38
NC_000009.11:g.452215_452216insC , CM000671.1:g.452215_452216insC GRCh37
NC_000009.10:g.442215_442216insC NCBI36
NG_017007.1:g.242351_242352insC , LRG_196:g.242351_242352insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.5768+98_5768+99insC ENSP00000371766.2:n.5768+98_5768+99insC
ENST00000683406.1:n.2543+98_2543+99insC
ENST00000684637.1:n.1749+98_1749+99insC
ENST00000685949.1:n.4856+98_4856+99insC
ENST00000432829.7:c.6068+98_6068+99insC MANE Select ENSP00000394888.3:n.6068+98_6068+99insC
ENST00000382329.1:c.4469+98_4469+99insC ENSP00000371766.1:n.4469+98_4469+99insC
ENST00000432829.6:c.6068+98_6068+99insC ENSP00000394888.3:n.6068+98_6068+99insC
ENST00000453981.5:c.5864+98_5864+99insC ENSP00000408464.2:n.5864+98_5864+99insC
ENST00000469391.5:c.5768+98_5768+99insC ENSP00000419438.1:n.5768+98_5768+99insC
ENST00000495184.5:n.8023+98_8023+99insC
NM_001190458.1:c.5768+98_5768+99insC NP_001177387.1:n.5768+98_5768+99insC
NM_001193536.1:c.5864+98_5864+99insC NP_001180465.1:n.5864+98_5864+99insC
NM_203447.3:c.6068+98_6068+99insC , LRG_196t1:c.6068+98_6068+99insC NP_982272.2:n.6068+98_6068+99insC
XM_011518045.1:c.5768+98_5768+99insC XP_011516347.1:n.5768+98_5768+99insC
XM_011518046.1:c.5930+98_5930+99insC XP_011516348.1:n.5930+98_5930+99insC
XM_011518047.1:c.5864+98_5864+99insC XP_011516349.1:n.5864+98_5864+99insC
XM_011518048.1:c.5864+98_5864+99insC XP_011516350.1:n.5864+98_5864+99insC
XM_011518049.1:c.4304+98_4304+99insC XP_011516351.1:n.4304+98_4304+99insC
XM_011518045.3:c.5768+98_5768+99insC XP_011516347.1:n.5768+98_5768+99insC
XM_011518046.2:c.5930+98_5930+99insC XP_011516348.1:n.5930+98_5930+99insC
XM_011518047.3:c.5864+98_5864+99insC XP_011516349.1:n.5864+98_5864+99insC
XM_011518048.2:c.5864+98_5864+99insC XP_011516350.1:n.5864+98_5864+99insC
XM_011518049.2:c.4304+98_4304+99insC XP_011516351.1:n.4304+98_4304+99insC
XM_017015173.1:c.5864+98_5864+99insC XP_016870662.1:n.5864+98_5864+99insC
XM_017015174.1:c.5930+98_5930+99insC XP_016870663.1:n.5930+98_5930+99insC
NM_001190458.2:c.5768+98_5768+99insC NP_001177387.1:n.5768+98_5768+99insC
NM_001193536.2:c.5864+98_5864+99insC NP_001180465.1:n.5864+98_5864+99insC
NM_203447.4:c.6068+98_6068+99insC MANE Select NP_982272.2:n.6068+98_6068+99insC