Canonical Allele Identifier: CA2689210396

Gene: DOCK8

Linked Data

• gnomAD v4: 9-441367-ACACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.441375_441378del , CM000671.2:g.441375_441378del	GRCh38
NC_000009.11:g.441375_441378del , CM000671.1:g.441375_441378del	GRCh37
NC_000009.10:g.431375_431378del	NCBI36
NG_017007.1:g.231511_231514del , LRG_196:g.231511_231514del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382329.2:c.5013_5016del	ENSP00000371766.2:p.His1672AlafsTer?
ENST00000683406.1:n.1788_1791del
ENST00000684637.1:n.994_997del
ENST00000685949.1:n.4101_4104del
ENST00000432829.7:c.5313_5316del MANE Select	ENSP00000394888.3:p.His1772AlafsTer?
ENST00000382329.1:c.3714_3717del	ENSP00000371766.1:p.His1239AlafsTer?
ENST00000432829.6:c.5313_5316del	ENSP00000394888.3:p.His1772AlafsTer?
ENST00000453981.5:c.5109_5112del	ENSP00000408464.2:p.His1704AlafsTer?
ENST00000469391.5:c.5013_5016del	ENSP00000419438.1:p.His1672AlafsTer?
ENST00000495184.5:n.7268_7271del
NM_001190458.1:c.5013_5016del	NP_001177387.1:p.His1672AlafsTer?
NM_001193536.1:c.5109_5112del	NP_001180465.1:p.His1704AlafsTer?
NM_203447.3:c.5313_5316del , LRG_196t1:c.5313_5316del	NP_982272.2:p.His1772AlafsTer?
XM_011518045.1:c.5013_5016del	XP_011516347.1:p.His1672AlafsTer?
XM_011518046.1:c.5175_5178del	XP_011516348.1:p.His1726AlafsTer?
XM_011518047.1:c.5109_5112del	XP_011516349.1:p.His1704AlafsTer?
XM_011518048.1:c.5109_5112del	XP_011516350.1:p.His1704AlafsTer?
XM_011518049.1:c.3549_3552del	XP_011516351.1:p.His1184AlafsTer?
XM_011518045.3:c.5013_5016del	XP_011516347.1:p.His1672AlafsTer?
XM_011518046.2:c.5175_5178del	XP_011516348.1:p.His1726AlafsTer?
XM_011518047.3:c.5109_5112del	XP_011516349.1:p.His1704AlafsTer?
XM_011518048.2:c.5109_5112del	XP_011516350.1:p.His1704AlafsTer?
XM_011518049.2:c.3549_3552del	XP_011516351.1:p.His1184AlafsTer?
XM_017015173.1:c.5109_5112del	XP_016870662.1:p.His1704AlafsTer?
XM_017015174.1:c.5175_5178del	XP_016870663.1:p.His1726AlafsTer?
NM_001190458.2:c.5013_5016del	NP_001177387.1:p.His1672AlafsTer?
NM_001193536.2:c.5109_5112del	NP_001180465.1:p.His1704AlafsTer?
NM_203447.4:c.5313_5316del MANE Select	NP_982272.2:p.His1772AlafsTer?