Canonical Allele Identifier: CA1826874022

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377020_377028delinsAGAGCCAGG , CM000671.2:g.377020_377028delinsAGAGCCAGG	GRCh38
NC_000009.11:g.377020_377028delinsAGAGCCAGG , CM000671.1:g.377020_377028delinsAGAGCCAGG	GRCh37
NC_000009.10:g.367020_367028delinsAGAGCCAGG	NCBI36
NG_017007.1:g.167156_167164delinsAGAGCCAGG , LRG_196:g.167156_167164delinsAGAGCCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2045_2053delinsAGAGCCAGG	ENSP00000371766.2:p.Glu682=
ENST00000382331.6:n.746_754delinsAGAGCCAGG
ENST00000483757.6:c.*936_*944delinsAGAGCCAGG	ENSP00000417691.2:n.*936_*944delinsAGAGCCAGG
ENST00000682260.1:n.2145_2153delinsAGAGCCAGG
ENST00000685949.1:n.1037_1045delinsAGAGCCAGG
ENST00000432829.7:c.2249_2257delinsAGAGCCAGG MANE Select	ENSP00000394888.3:p.Glu750=
ENST00000382329.1:c.650_658delinsAGAGCCAGG	ENSP00000371766.1:p.Glu217=
ENST00000382331.5:c.155_163delinsAGAGCCAGG	ENSP00000371768.1:p.Glu52=
ENST00000432829.6:c.2249_2257delinsAGAGCCAGG	ENSP00000394888.3:p.Glu750=
ENST00000453981.5:c.2045_2053delinsAGAGCCAGG	ENSP00000408464.2:p.Glu682=
ENST00000469391.5:c.2045_2053delinsAGAGCCAGG	ENSP00000419438.1:p.Glu682=
ENST00000483757.5:c.*1724_*1732delinsAGAGCCAGG	ENSP00000417691.1:n.*1724_*1732delinsAGAGCCAGG
ENST00000495184.5:n.4204_4212delinsAGAGCCAGG
NM_001190458.1:c.2045_2053delinsAGAGCCAGG	NP_001177387.1:p.Glu682=
NM_001193536.1:c.2045_2053delinsAGAGCCAGG	NP_001180465.1:p.Glu682=
NM_203447.3:c.2249_2257delinsAGAGCCAGG , LRG_196t1:c.2249_2257delinsAGAGCCAGG	NP_982272.2:p.Glu750=
XM_011518045.1:c.2045_2053delinsAGAGCCAGG	XP_011516347.1:p.Glu682=
XM_011518046.1:c.2111_2119delinsAGAGCCAGG	XP_011516348.1:p.Glu704=
XM_011518047.1:c.2045_2053delinsAGAGCCAGG	XP_011516349.1:p.Glu682=
XM_011518048.1:c.2045_2053delinsAGAGCCAGG	XP_011516350.1:p.Glu682=
XM_011518049.1:c.485_493delinsAGAGCCAGG	XP_011516351.1:p.Glu162=
XM_011518045.3:c.2045_2053delinsAGAGCCAGG	XP_011516347.1:p.Glu682=
XM_011518046.2:c.2111_2119delinsAGAGCCAGG	XP_011516348.1:p.Glu704=
XM_011518047.3:c.2045_2053delinsAGAGCCAGG	XP_011516349.1:p.Glu682=
XM_011518048.2:c.2045_2053delinsAGAGCCAGG	XP_011516350.1:p.Glu682=
XM_011518049.2:c.485_493delinsAGAGCCAGG	XP_011516351.1:p.Glu162=
XM_017015173.1:c.2045_2053delinsAGAGCCAGG	XP_016870662.1:p.Glu682=
XM_017015174.1:c.2111_2119delinsAGAGCCAGG	XP_016870663.1:p.Glu704=
NM_001190458.2:c.2045_2053delinsAGAGCCAGG	NP_001177387.1:p.Glu682=
NM_001193536.2:c.2045_2053delinsAGAGCCAGG	NP_001180465.1:p.Glu682=
NM_203447.4:c.2249_2257delinsAGAGCCAGG MANE Select	NP_982272.2:p.Glu750=