Canonical Allele Identifier: CA1826874024

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377028G= , CM000671.2:g.377028G=	GRCh38
NC_000009.11:g.377028G= , CM000671.1:g.377028G=	GRCh37
NC_000009.10:g.367028G=	NCBI36
NG_017007.1:g.167164G= , LRG_196:g.167164G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2053G=	ENSP00000371766.2:p.Val685=
ENST00000382331.6:n.754G=
ENST00000483757.6:c.*944G=	ENSP00000417691.2:n.*944G=
ENST00000682260.1:n.2153G=
ENST00000685949.1:n.1045G=
ENST00000432829.7:c.2257G= MANE Select	ENSP00000394888.3:p.Val753=
ENST00000382329.1:c.658G=	ENSP00000371766.1:p.Val220=
ENST00000382331.5:c.163G=	ENSP00000371768.1:p.Val55=
ENST00000432829.6:c.2257G=	ENSP00000394888.3:p.Val753=
ENST00000453981.5:c.2053G=	ENSP00000408464.2:p.Val685=
ENST00000469391.5:c.2053G=	ENSP00000419438.1:p.Val685=
ENST00000483757.5:c.*1732G=	ENSP00000417691.1:n.*1732G=
ENST00000495184.5:n.4212G=
NM_001190458.1:c.2053G=	NP_001177387.1:p.Val685=
NM_001193536.1:c.2053G=	NP_001180465.1:p.Val685=
NM_203447.3:c.2257G= , LRG_196t1:c.2257G=	NP_982272.2:p.Val753=
XM_011518045.1:c.2053G=	XP_011516347.1:p.Val685=
XM_011518046.1:c.2119G=	XP_011516348.1:p.Val707=
XM_011518047.1:c.2053G=	XP_011516349.1:p.Val685=
XM_011518048.1:c.2053G=	XP_011516350.1:p.Val685=
XM_011518049.1:c.493G=	XP_011516351.1:p.Val165=
XM_011518045.3:c.2053G=	XP_011516347.1:p.Val685=
XM_011518046.2:c.2119G=	XP_011516348.1:p.Val707=
XM_011518047.3:c.2053G=	XP_011516349.1:p.Val685=
XM_011518048.2:c.2053G=	XP_011516350.1:p.Val685=
XM_011518049.2:c.493G=	XP_011516351.1:p.Val165=
XM_017015173.1:c.2053G=	XP_016870662.1:p.Val685=
XM_017015174.1:c.2119G=	XP_016870663.1:p.Val707=
NM_001190458.2:c.2053G=	NP_001177387.1:p.Val685=
NM_001193536.2:c.2053G=	NP_001180465.1:p.Val685=
NM_203447.4:c.2257G= MANE Select	NP_982272.2:p.Val753=