Canonical Allele Identifier: CA2689205189

Gene: DOCK8

Linked Data

• gnomAD v4: 9-377085-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377086dup , CM000671.2:g.377086dup	GRCh38
NC_000009.11:g.377086dup , CM000671.1:g.377086dup	GRCh37
NC_000009.10:g.367086dup	NCBI36
NG_017007.1:g.167222dup , LRG_196:g.167222dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2111dup	ENSP00000371766.2:p.Leu705AlafsTer?
ENST00000382331.6:n.812dup
ENST00000483757.6:c.*1002dup	ENSP00000417691.2:n.*1002dup
ENST00000682260.1:n.2211dup
ENST00000685949.1:n.1103dup
ENST00000432829.7:c.2315dup MANE Select	ENSP00000394888.3:p.Leu773AlafsTer?
ENST00000382329.1:c.716dup	ENSP00000371766.1:p.Leu240AlafsTer?
ENST00000382331.5:c.221dup	ENSP00000371768.1:p.Leu75AlafsTer?
ENST00000432829.6:c.2315dup	ENSP00000394888.3:p.Leu773AlafsTer?
ENST00000453981.5:c.2111dup	ENSP00000408464.2:p.Leu705AlafsTer?
ENST00000469391.5:c.2111dup	ENSP00000419438.1:p.Leu705AlafsTer?
ENST00000483757.5:c.*1790dup	ENSP00000417691.1:n.*1790dup
ENST00000495184.5:n.4270dup
NM_001190458.1:c.2111dup	NP_001177387.1:p.Leu705AlafsTer?
NM_001193536.1:c.2111dup	NP_001180465.1:p.Leu705AlafsTer?
NM_203447.3:c.2315dup , LRG_196t1:c.2315dup	NP_982272.2:p.Leu773AlafsTer?
XM_011518045.1:c.2111dup	XP_011516347.1:p.Leu705AlafsTer?
XM_011518046.1:c.2177dup	XP_011516348.1:p.Leu727AlafsTer?
XM_011518047.1:c.2111dup	XP_011516349.1:p.Leu705AlafsTer?
XM_011518048.1:c.2111dup	XP_011516350.1:p.Leu705AlafsTer?
XM_011518049.1:c.551dup	XP_011516351.1:p.Leu185AlafsTer?
XM_011518045.3:c.2111dup	XP_011516347.1:p.Leu705AlafsTer?
XM_011518046.2:c.2177dup	XP_011516348.1:p.Leu727AlafsTer?
XM_011518047.3:c.2111dup	XP_011516349.1:p.Leu705AlafsTer?
XM_011518048.2:c.2111dup	XP_011516350.1:p.Leu705AlafsTer?
XM_011518049.2:c.551dup	XP_011516351.1:p.Leu185AlafsTer?
XM_017015173.1:c.2111dup	XP_016870662.1:p.Leu705AlafsTer?
XM_017015174.1:c.2177dup	XP_016870663.1:p.Leu727AlafsTer?
NM_001190458.2:c.2111dup	NP_001177387.1:p.Leu705AlafsTer?
NM_001193536.2:c.2111dup	NP_001180465.1:p.Leu705AlafsTer?
NM_203447.4:c.2315dup MANE Select	NP_982272.2:p.Leu773AlafsTer?