Canonical Allele Identifier: CA864781699

Gene: DOCK8

Linked Data

• dbSNP Id: rs1181074497
• gnomAD v4: 9-452218-CAA-C
• MyVariant Identifiers: chr9:g.452219_452220del (hg19) ; chr9:g.452219_452220del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.452220_452221del , CM000671.2:g.452220_452221del	GRCh38
NC_000009.11:g.452220_452221del , CM000671.1:g.452220_452221del	GRCh37
NC_000009.10:g.442220_442221del	NCBI36
NG_017007.1:g.242356_242357del , LRG_196:g.242356_242357del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5768+103_5768+104del	ENSP00000371766.2:n.5768+103_5768+104del
ENST00000683406.1:n.2543+103_2543+104del
ENST00000684637.1:n.1749+103_1749+104del
ENST00000685949.1:n.4856+103_4856+104del
ENST00000432829.7:c.6068+103_6068+104del MANE Select	ENSP00000394888.3:n.6068+103_6068+104del
ENST00000382329.1:c.4469+103_4469+104del	ENSP00000371766.1:n.4469+103_4469+104del
ENST00000432829.6:c.6068+103_6068+104del	ENSP00000394888.3:n.6068+103_6068+104del
ENST00000453981.5:c.5864+103_5864+104del	ENSP00000408464.2:n.5864+103_5864+104del
ENST00000469391.5:c.5768+103_5768+104del	ENSP00000419438.1:n.5768+103_5768+104del
ENST00000495184.5:n.8023+103_8023+104del
NM_001190458.1:c.5768+103_5768+104del	NP_001177387.1:n.5768+103_5768+104del
NM_001193536.1:c.5864+103_5864+104del	NP_001180465.1:n.5864+103_5864+104del
NM_203447.3:c.6068+103_6068+104del , LRG_196t1:c.6068+103_6068+104del	NP_982272.2:n.6068+103_6068+104del
XM_011518045.1:c.5768+103_5768+104del	XP_011516347.1:n.5768+103_5768+104del
XM_011518046.1:c.5930+103_5930+104del	XP_011516348.1:n.5930+103_5930+104del
XM_011518047.1:c.5864+103_5864+104del	XP_011516349.1:n.5864+103_5864+104del
XM_011518048.1:c.5864+103_5864+104del	XP_011516350.1:n.5864+103_5864+104del
XM_011518049.1:c.4304+103_4304+104del	XP_011516351.1:n.4304+103_4304+104del
XM_011518045.3:c.5768+103_5768+104del	XP_011516347.1:n.5768+103_5768+104del
XM_011518046.2:c.5930+103_5930+104del	XP_011516348.1:n.5930+103_5930+104del
XM_011518047.3:c.5864+103_5864+104del	XP_011516349.1:n.5864+103_5864+104del
XM_011518048.2:c.5864+103_5864+104del	XP_011516350.1:n.5864+103_5864+104del
XM_011518049.2:c.4304+103_4304+104del	XP_011516351.1:n.4304+103_4304+104del
XM_017015173.1:c.5864+103_5864+104del	XP_016870662.1:n.5864+103_5864+104del
XM_017015174.1:c.5930+103_5930+104del	XP_016870663.1:n.5930+103_5930+104del
NM_001190458.2:c.5768+103_5768+104del	NP_001177387.1:n.5768+103_5768+104del
NM_001193536.2:c.5864+103_5864+104del	NP_001180465.1:n.5864+103_5864+104del
NM_203447.4:c.6068+103_6068+104del MANE Select	NP_982272.2:n.6068+103_6068+104del