Canonical Allele Identifier: CA16618847

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 421576
• ClinVar RCV Id: RCV000485382 ; RCV000985049
• dbSNP Id: rs1554668061
• MyVariant Identifiers: chr9:g.325725dupA (hg19) ; chr9:g.325725dupA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.325725dup , CM000671.2:g.325725dup	GRCh38
NC_000009.11:g.325725dup , CM000671.1:g.325725dup	GRCh37
NC_000009.10:g.315725dup	NCBI36
NG_017007.1:g.115861dup , LRG_196:g.115861dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000382329.2:c.678dup	ENSP00000371766.2:p.Glu227ArgfsTer12
ENST00000474772.2:n.328dup
ENST00000483757.6:c.678dup	ENSP00000417691.2:p.Glu227ArgfsTer12
ENST00000432829.7:c.882dup MANE Select	ENSP00000394888.3:p.Glu295ArgfsTer12
ENST00000382341.5:n.777dup
ENST00000432829.6:c.882dup	ENSP00000394888.3:p.Glu295ArgfsTer12
ENST00000453981.5:c.678dup	ENSP00000408464.2:p.Glu227ArgfsTer12
ENST00000454469.6:n.991dup
ENST00000469391.5:c.678dup	ENSP00000419438.1:p.Glu227ArgfsTer12
ENST00000483757.5:c.678dup	ENSP00000417691.1:p.Glu227ArgfsTer12
ENST00000495184.5:n.743dup
ENST00000524396.5:c.*845dup	ENSP00000436628.1:n.*845dup
NM_001190458.1:c.678dup	NP_001177387.1:p.Glu227ArgfsTer12
NM_001193536.1:c.678dup	NP_001180465.1:p.Glu227ArgfsTer12
NM_203447.3:c.882dup , LRG_196t1:c.882dup	NP_982272.2:p.Glu295ArgfsTer12
XM_011518045.1:c.678dup	XP_011516347.1:p.Glu227ArgfsTer12
XM_011518046.1:c.744dup	XP_011516348.1:p.Glu249ArgfsTer12
XM_011518047.1:c.678dup	XP_011516349.1:p.Glu227ArgfsTer12
XM_011518048.1:c.678dup	XP_011516350.1:p.Glu227ArgfsTer12
XM_011518045.3:c.678dup	XP_011516347.1:p.Glu227ArgfsTer12
XM_011518046.2:c.744dup	XP_011516348.1:p.Glu249ArgfsTer12
XM_011518047.3:c.678dup	XP_011516349.1:p.Glu227ArgfsTer12
XM_011518048.2:c.678dup	XP_011516350.1:p.Glu227ArgfsTer12
XM_017015173.1:c.678dup	XP_016870662.1:p.Glu227ArgfsTer12
XM_017015174.1:c.744dup	XP_016870663.1:p.Glu249ArgfsTer12
NM_001190458.2:c.678dup	NP_001177387.1:p.Glu227ArgfsTer12
NM_001193536.2:c.678dup	NP_001180465.1:p.Glu227ArgfsTer12
NM_203447.4:c.882dup MANE Select	NP_982272.2:p.Glu295ArgfsTer12