Canonical Allele Identifier: CA1826910626
Gene: DOCK8 HGNC NCBI

Linked Data

dbSNP Id: rs2057482768

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.452021_452022insG , CM000671.2:g.452021_452022insG GRCh38
NC_000009.11:g.452021_452022insG , CM000671.1:g.452021_452022insG GRCh37
NC_000009.10:g.442021_442022insG NCBI36
NG_017007.1:g.242157_242158insG , LRG_196:g.242157_242158insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.5672_5673insG ENSP00000371766.2:p.Val1892SerfsTer8
ENST00000683406.1:n.2447_2448insG
ENST00000684637.1:n.1653_1654insG
ENST00000685949.1:n.4760_4761insG
ENST00000432829.7:c.5972_5973insG MANE Select ENSP00000394888.3:p.Val1992SerfsTer8
ENST00000382329.1:c.4373_4374insG ENSP00000371766.1:p.Val1459SerfsTer8
ENST00000432829.6:c.5972_5973insG ENSP00000394888.3:p.Val1992SerfsTer8
ENST00000453981.5:c.5768_5769insG ENSP00000408464.2:p.Val1924SerfsTer8
ENST00000469391.5:c.5672_5673insG ENSP00000419438.1:p.Val1892SerfsTer8
ENST00000495184.5:n.7927_7928insG
NM_001190458.1:c.5672_5673insG NP_001177387.1:p.Val1892SerfsTer8
NM_001193536.1:c.5768_5769insG NP_001180465.1:p.Val1924SerfsTer8
NM_203447.3:c.5972_5973insG , LRG_196t1:c.5972_5973insG NP_982272.2:p.Val1992SerfsTer8
XM_011518045.1:c.5672_5673insG XP_011516347.1:p.Val1892SerfsTer8
XM_011518046.1:c.5834_5835insG XP_011516348.1:p.Val1946SerfsTer8
XM_011518047.1:c.5768_5769insG XP_011516349.1:p.Val1924SerfsTer8
XM_011518048.1:c.5768_5769insG XP_011516350.1:p.Val1924SerfsTer8
XM_011518049.1:c.4208_4209insG XP_011516351.1:p.Val1404SerfsTer8
XM_011518045.3:c.5672_5673insG XP_011516347.1:p.Val1892SerfsTer8
XM_011518046.2:c.5834_5835insG XP_011516348.1:p.Val1946SerfsTer8
XM_011518047.3:c.5768_5769insG XP_011516349.1:p.Val1924SerfsTer8
XM_011518048.2:c.5768_5769insG XP_011516350.1:p.Val1924SerfsTer8
XM_011518049.2:c.4208_4209insG XP_011516351.1:p.Val1404SerfsTer8
XM_017015173.1:c.5768_5769insG XP_016870662.1:p.Val1924SerfsTer8
XM_017015174.1:c.5834_5835insG XP_016870663.1:p.Val1946SerfsTer8
NM_001190458.2:c.5672_5673insG NP_001177387.1:p.Val1892SerfsTer8
NM_001193536.2:c.5768_5769insG NP_001180465.1:p.Val1924SerfsTer8
NM_203447.4:c.5972_5973insG MANE Select NP_982272.2:p.Val1992SerfsTer8