Canonical Allele Identifier: CA1826889035

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.414844T= , CM000671.2:g.414844T=	GRCh38
NC_000009.11:g.414844T= , CM000671.1:g.414844T=	GRCh37
NC_000009.10:g.404844T=	NCBI36
NG_017007.1:g.204980T= , LRG_196:g.204980T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.3293T=	ENSP00000371766.2:p.Leu1098=
ENST00000683406.1:n.114T=
ENST00000685949.1:n.2381T=
ENST00000432829.7:c.3593T= MANE Select	ENSP00000394888.3:p.Leu1198=
ENST00000382329.1:c.1994T=	ENSP00000371766.1:p.Leu665=
ENST00000432829.6:c.3593T=	ENSP00000394888.3:p.Leu1198=
ENST00000453981.5:c.3389T=	ENSP00000408464.2:p.Leu1130=
ENST00000469391.5:c.3293T=	ENSP00000419438.1:p.Leu1098=
ENST00000495184.5:n.5548T=
NM_001190458.1:c.3293T=	NP_001177387.1:p.Leu1098=
NM_001193536.1:c.3389T=	NP_001180465.1:p.Leu1130=
NM_203447.3:c.3593T= , LRG_196t1:c.3593T=	NP_982272.2:p.Leu1198=
XM_011518045.1:c.3293T=	XP_011516347.1:p.Leu1098=
XM_011518046.1:c.3455T=	XP_011516348.1:p.Leu1152=
XM_011518047.1:c.3389T=	XP_011516349.1:p.Leu1130=
XM_011518048.1:c.3389T=	XP_011516350.1:p.Leu1130=
XM_011518049.1:c.1829T=	XP_011516351.1:p.Leu610=
XM_011518045.3:c.3293T=	XP_011516347.1:p.Leu1098=
XM_011518046.2:c.3455T=	XP_011516348.1:p.Leu1152=
XM_011518047.3:c.3389T=	XP_011516349.1:p.Leu1130=
XM_011518048.2:c.3389T=	XP_011516350.1:p.Leu1130=
XM_011518049.2:c.1829T=	XP_011516351.1:p.Leu610=
XM_017015173.1:c.3389T=	XP_016870662.1:p.Leu1130=
XM_017015174.1:c.3455T=	XP_016870663.1:p.Leu1152=
NM_001190458.2:c.3293T=	NP_001177387.1:p.Leu1098=
NM_001193536.2:c.3389T=	NP_001180465.1:p.Leu1130=
NM_203447.4:c.3593T= MANE Select	NP_982272.2:p.Leu1198=