Canonical Allele Identifier: CA2499219913

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.442000dup , CM000671.2:g.442000dup	GRCh38
NC_000009.11:g.442000dup , CM000671.1:g.442000dup	GRCh37
NC_000009.10:g.432000dup	NCBI36
NG_017007.1:g.232136dup , LRG_196:g.232136dup

Transcript Alleles

HGVS	Amino-acid Change
NM_203447.4:c.5481dup MANE Select	NP_982272.2:p.Arg1828Ter
ENST00000432829.7:c.5481dup MANE Select	ENSP00000394888.3:p.Arg1828Ter
NM_001190458.1:c.5181dup	NP_001177387.1:p.Arg1728Ter
NM_001190458.2:c.5181dup	NP_001177387.1:p.Arg1728Ter
NM_001193536.1:c.5277dup	NP_001180465.1:p.Arg1760Ter
NM_001193536.2:c.5277dup	NP_001180465.1:p.Arg1760Ter
NM_203447.3:c.5481dup , LRG_196t1:c.5481dup	NP_982272.2:p.Arg1828Ter
ENST00000382329.1:c.3882dup	ENSP00000371766.1:p.Arg1295Ter
ENST00000382329.2:c.5181dup	ENSP00000371766.2:p.Arg1728Ter
ENST00000432829.6:c.5481dup	ENSP00000394888.3:p.Arg1828Ter
ENST00000453981.5:c.5277dup	ENSP00000408464.2:p.Arg1760Ter
ENST00000469391.5:c.5181dup	ENSP00000419438.1:p.Arg1728Ter
ENST00000495184.5:n.7436dup
ENST00000683406.1:n.1956dup
ENST00000684637.1:n.1162dup
ENST00000685949.1:n.4269dup
XM_011518045.1:c.5181dup	XP_011516347.1:p.Arg1728Ter
XM_011518045.3:c.5181dup	XP_011516347.1:p.Arg1728Ter
XM_011518046.1:c.5343dup	XP_011516348.1:p.Arg1782Ter
XM_011518046.2:c.5343dup	XP_011516348.1:p.Arg1782Ter
XM_011518047.1:c.5277dup	XP_011516349.1:p.Arg1760Ter
XM_011518047.3:c.5277dup	XP_011516349.1:p.Arg1760Ter
XM_011518048.1:c.5277dup	XP_011516350.1:p.Arg1760Ter
XM_011518048.2:c.5277dup	XP_011516350.1:p.Arg1760Ter
XM_011518049.1:c.3717dup	XP_011516351.1:p.Arg1240Ter
XM_011518049.2:c.3717dup	XP_011516351.1:p.Arg1240Ter
XM_017015173.1:c.5277dup	XP_016870662.1:p.Arg1760Ter
XM_017015174.1:c.5343dup	XP_016870663.1:p.Arg1782Ter