Canonical Allele Identifier: CA2689211307
Community Standard Title: NM_203447.4(DOCK8):c.5962-120_5962-17del
Gene: DOCK8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.451891_451994del , CM000671.2:g.451891_451994del GRCh38
NC_000009.11:g.451891_451994del , CM000671.1:g.451891_451994del GRCh37
NC_000009.10:g.441891_441994del NCBI36
NG_017007.1:g.242027_242130del , LRG_196:g.242027_242130del

Transcript Alleles

HGVS Amino-acid Change
NM_203447.4:c.5962-120_5962-17del MANE Select NP_982272.2:n.5962-120_5962-17del
ENST00000432829.7:c.5962-120_5962-17del MANE Select ENSP00000394888.3:n.5962-120_5962-17del
NM_001190458.1:c.5662-120_5662-17del NP_001177387.1:n.5662-120_5662-17del
NM_001190458.2:c.5662-120_5662-17del NP_001177387.1:n.5662-120_5662-17del
NM_001193536.1:c.5758-120_5758-17del NP_001180465.1:n.5758-120_5758-17del
NM_001193536.2:c.5758-120_5758-17del NP_001180465.1:n.5758-120_5758-17del
NM_203447.3:c.5962-120_5962-17del , LRG_196t1:c.5962-120_5962-17del NP_982272.2:n.5962-120_5962-17del
ENST00000382329.1:c.4363-120_4363-17del ENSP00000371766.1:n.4363-120_4363-17del
ENST00000382329.2:c.5662-120_5662-17del ENSP00000371766.2:n.5662-120_5662-17del
ENST00000432829.6:c.5962-120_5962-17del ENSP00000394888.3:n.5962-120_5962-17del
ENST00000453981.5:c.5758-120_5758-17del ENSP00000408464.2:n.5758-120_5758-17del
ENST00000469391.5:c.5662-120_5662-17del ENSP00000419438.1:n.5662-120_5662-17del
ENST00000495184.5:n.7917-120_7917-17del
ENST00000683406.1:n.2437-120_2437-17del
ENST00000684637.1:n.1643-120_1643-17del
ENST00000685949.1:n.4750-120_4750-17del
XM_011518045.1:c.5662-120_5662-17del XP_011516347.1:n.5662-120_5662-17del
XM_011518045.3:c.5662-120_5662-17del XP_011516347.1:n.5662-120_5662-17del
XM_011518046.1:c.5824-120_5824-17del XP_011516348.1:n.5824-120_5824-17del
XM_011518046.2:c.5824-120_5824-17del XP_011516348.1:n.5824-120_5824-17del
XM_011518047.1:c.5758-120_5758-17del XP_011516349.1:n.5758-120_5758-17del
XM_011518047.3:c.5758-120_5758-17del XP_011516349.1:n.5758-120_5758-17del
XM_011518048.1:c.5758-120_5758-17del XP_011516350.1:n.5758-120_5758-17del
XM_011518048.2:c.5758-120_5758-17del XP_011516350.1:n.5758-120_5758-17del
XM_011518049.1:c.4198-120_4198-17del XP_011516351.1:n.4198-120_4198-17del
XM_011518049.2:c.4198-120_4198-17del XP_011516351.1:n.4198-120_4198-17del
XM_017015173.1:c.5758-120_5758-17del XP_016870662.1:n.5758-120_5758-17del
XM_017015174.1:c.5824-120_5824-17del XP_016870663.1:n.5824-120_5824-17del