Canonical Allele Identifier: CA2504212989

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.441369del , CM000671.2:g.441369del	GRCh38
NC_000009.11:g.441369del , CM000671.1:g.441369del	GRCh37
NC_000009.10:g.431369del	NCBI36
NG_017007.1:g.231505del , LRG_196:g.231505del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382329.2:c.5007del	ENSP00000371766.2:p.Leu1670SerfsTer?
ENST00000683406.1:n.1782del
ENST00000684637.1:n.988del
ENST00000685949.1:n.4095del
ENST00000432829.7:c.5307del MANE Select	ENSP00000394888.3:p.Leu1770SerfsTer?
ENST00000382329.1:c.3708del	ENSP00000371766.1:p.Leu1237SerfsTer?
ENST00000432829.6:c.5307del	ENSP00000394888.3:p.Leu1770SerfsTer?
ENST00000453981.5:c.5103del	ENSP00000408464.2:p.Leu1702SerfsTer?
ENST00000469391.5:c.5007del	ENSP00000419438.1:p.Leu1670SerfsTer?
ENST00000495184.5:n.7262del
NM_001190458.1:c.5007del	NP_001177387.1:p.Leu1670SerfsTer?
NM_001193536.1:c.5103del	NP_001180465.1:p.Leu1702SerfsTer?
NM_203447.3:c.5307del , LRG_196t1:c.5307del	NP_982272.2:p.Leu1770SerfsTer?
XM_011518045.1:c.5007del	XP_011516347.1:p.Leu1670SerfsTer?
XM_011518046.1:c.5169del	XP_011516348.1:p.Leu1724SerfsTer?
XM_011518047.1:c.5103del	XP_011516349.1:p.Leu1702SerfsTer?
XM_011518048.1:c.5103del	XP_011516350.1:p.Leu1702SerfsTer?
XM_011518049.1:c.3543del	XP_011516351.1:p.Leu1182SerfsTer?
XM_011518045.3:c.5007del	XP_011516347.1:p.Leu1670SerfsTer?
XM_011518046.2:c.5169del	XP_011516348.1:p.Leu1724SerfsTer?
XM_011518047.3:c.5103del	XP_011516349.1:p.Leu1702SerfsTer?
XM_011518048.2:c.5103del	XP_011516350.1:p.Leu1702SerfsTer?
XM_011518049.2:c.3543del	XP_011516351.1:p.Leu1182SerfsTer?
XM_017015173.1:c.5103del	XP_016870662.1:p.Leu1702SerfsTer?
XM_017015174.1:c.5169del	XP_016870663.1:p.Leu1724SerfsTer?
NM_001190458.2:c.5007del	NP_001177387.1:p.Leu1670SerfsTer?
NM_001193536.2:c.5103del	NP_001180465.1:p.Leu1702SerfsTer?
NM_203447.4:c.5307del MANE Select	NP_982272.2:p.Leu1770SerfsTer?