Canonical Allele Identifier: CA2579287015

Gene: DOCK8

Linked Data

• gnomAD v4: 9-377148-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377149del , CM000671.2:g.377149del	GRCh38
NC_000009.11:g.377149del , CM000671.1:g.377149del	GRCh37
NC_000009.10:g.367149del	NCBI36
NG_017007.1:g.167285del , LRG_196:g.167285del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2174del	ENSP00000371766.2:p.His725ProfsTer?
ENST00000382331.6:n.875del
ENST00000483757.6:c.*1065del	ENSP00000417691.2:n.*1065del
ENST00000682260.1:n.2274del
ENST00000685949.1:n.1166del
ENST00000432829.7:c.2378del MANE Select	ENSP00000394888.3:p.His793ProfsTer?
ENST00000382329.1:c.779del	ENSP00000371766.1:p.His260ProfsTer?
ENST00000382331.5:c.284del	ENSP00000371768.1:p.His95ProfsTer?
ENST00000432829.6:c.2378del	ENSP00000394888.3:p.His793ProfsTer?
ENST00000453981.5:c.2174del	ENSP00000408464.2:p.His725ProfsTer?
ENST00000469391.5:c.2174del	ENSP00000419438.1:p.His725ProfsTer?
ENST00000483757.5:c.*1853del	ENSP00000417691.1:n.*1853del
ENST00000495184.5:n.4333del
NM_001190458.1:c.2174del	NP_001177387.1:p.His725ProfsTer?
NM_001193536.1:c.2174del	NP_001180465.1:p.His725ProfsTer?
NM_203447.3:c.2378del , LRG_196t1:c.2378del	NP_982272.2:p.His793ProfsTer?
XM_011518045.1:c.2174del	XP_011516347.1:p.His725ProfsTer?
XM_011518046.1:c.2240del	XP_011516348.1:p.His747ProfsTer?
XM_011518047.1:c.2174del	XP_011516349.1:p.His725ProfsTer?
XM_011518048.1:c.2174del	XP_011516350.1:p.His725ProfsTer?
XM_011518049.1:c.614del	XP_011516351.1:p.His205ProfsTer?
XM_011518045.3:c.2174del	XP_011516347.1:p.His725ProfsTer?
XM_011518046.2:c.2240del	XP_011516348.1:p.His747ProfsTer?
XM_011518047.3:c.2174del	XP_011516349.1:p.His725ProfsTer?
XM_011518048.2:c.2174del	XP_011516350.1:p.His725ProfsTer?
XM_011518049.2:c.614del	XP_011516351.1:p.His205ProfsTer?
XM_017015173.1:c.2174del	XP_016870662.1:p.His725ProfsTer?
XM_017015174.1:c.2240del	XP_016870663.1:p.His747ProfsTer?
NM_001190458.2:c.2174del	NP_001177387.1:p.His725ProfsTer?
NM_001193536.2:c.2174del	NP_001180465.1:p.His725ProfsTer?
NM_203447.4:c.2378del MANE Select	NP_982272.2:p.His793ProfsTer?