Canonical Allele Identifier: CA1826874035

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377051G= , CM000671.2:g.377051G=	GRCh38
NC_000009.11:g.377051G= , CM000671.1:g.377051G=	GRCh37
NC_000009.10:g.367051G=	NCBI36
NG_017007.1:g.167187G= , LRG_196:g.167187G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2076G=	ENSP00000371766.2:p.Leu692=
ENST00000382331.6:n.777G=
ENST00000483757.6:c.*967G=	ENSP00000417691.2:n.*967G=
ENST00000682260.1:n.2176G=
ENST00000685949.1:n.1068G=
ENST00000432829.7:c.2280G= MANE Select	ENSP00000394888.3:p.Leu760=
ENST00000382329.1:c.681G=	ENSP00000371766.1:p.Leu227=
ENST00000382331.5:c.186G=	ENSP00000371768.1:p.Leu62=
ENST00000432829.6:c.2280G=	ENSP00000394888.3:p.Leu760=
ENST00000453981.5:c.2076G=	ENSP00000408464.2:p.Leu692=
ENST00000469391.5:c.2076G=	ENSP00000419438.1:p.Leu692=
ENST00000483757.5:c.*1755G=	ENSP00000417691.1:n.*1755G=
ENST00000495184.5:n.4235G=
NM_001190458.1:c.2076G=	NP_001177387.1:p.Leu692=
NM_001193536.1:c.2076G=	NP_001180465.1:p.Leu692=
NM_203447.3:c.2280G= , LRG_196t1:c.2280G=	NP_982272.2:p.Leu760=
XM_011518045.1:c.2076G=	XP_011516347.1:p.Leu692=
XM_011518046.1:c.2142G=	XP_011516348.1:p.Leu714=
XM_011518047.1:c.2076G=	XP_011516349.1:p.Leu692=
XM_011518048.1:c.2076G=	XP_011516350.1:p.Leu692=
XM_011518049.1:c.516G=	XP_011516351.1:p.Leu172=
XM_011518045.3:c.2076G=	XP_011516347.1:p.Leu692=
XM_011518046.2:c.2142G=	XP_011516348.1:p.Leu714=
XM_011518047.3:c.2076G=	XP_011516349.1:p.Leu692=
XM_011518048.2:c.2076G=	XP_011516350.1:p.Leu692=
XM_011518049.2:c.516G=	XP_011516351.1:p.Leu172=
XM_017015173.1:c.2076G=	XP_016870662.1:p.Leu692=
XM_017015174.1:c.2142G=	XP_016870663.1:p.Leu714=
NM_001190458.2:c.2076G=	NP_001177387.1:p.Leu692=
NM_001193536.2:c.2076G=	NP_001180465.1:p.Leu692=
NM_203447.4:c.2280G= MANE Select	NP_982272.2:p.Leu760=