Canonical Allele Identifier: CA2689211759

Gene: DOCK8

Linked Data

• gnomAD v4: 9-452260-TGGAGGTGTGGCTCAGCAATGTGCAGTTTAACCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.452262_452294del , CM000671.2:g.452262_452294del	GRCh38
NC_000009.11:g.452262_452294del , CM000671.1:g.452262_452294del	GRCh37
NC_000009.10:g.442262_442294del	NCBI36
NG_017007.1:g.242398_242430del , LRG_196:g.242398_242430del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5768+145_5768+177del	ENSP00000371766.2:n.5768+145_5768+177del
ENST00000683406.1:n.2543+145_2543+177del
ENST00000684637.1:n.1749+145_1749+177del
ENST00000685949.1:n.4856+145_4856+177del
ENST00000432829.7:c.6068+145_6068+177del MANE Select	ENSP00000394888.3:n.6068+145_6068+177del
ENST00000382329.1:c.4469+145_4469+177del	ENSP00000371766.1:n.4469+145_4469+177del
ENST00000432829.6:c.6068+145_6068+177del	ENSP00000394888.3:n.6068+145_6068+177del
ENST00000453981.5:c.5864+145_5864+177del	ENSP00000408464.2:n.5864+145_5864+177del
ENST00000469391.5:c.5768+145_5768+177del	ENSP00000419438.1:n.5768+145_5768+177del
ENST00000495184.5:n.8023+145_8023+177del
NM_001190458.1:c.5768+145_5768+177del	NP_001177387.1:n.5768+145_5768+177del
NM_001193536.1:c.5864+145_5864+177del	NP_001180465.1:n.5864+145_5864+177del
NM_203447.3:c.6068+145_6068+177del , LRG_196t1:c.6068+145_6068+177del	NP_982272.2:n.6068+145_6068+177del
XM_011518045.1:c.5768+145_5768+177del	XP_011516347.1:n.5768+145_5768+177del
XM_011518046.1:c.5930+145_5930+177del	XP_011516348.1:n.5930+145_5930+177del
XM_011518047.1:c.5864+145_5864+177del	XP_011516349.1:n.5864+145_5864+177del
XM_011518048.1:c.5864+145_5864+177del	XP_011516350.1:n.5864+145_5864+177del
XM_011518049.1:c.4304+145_4304+177del	XP_011516351.1:n.4304+145_4304+177del
XM_011518045.3:c.5768+145_5768+177del	XP_011516347.1:n.5768+145_5768+177del
XM_011518046.2:c.5930+145_5930+177del	XP_011516348.1:n.5930+145_5930+177del
XM_011518047.3:c.5864+145_5864+177del	XP_011516349.1:n.5864+145_5864+177del
XM_011518048.2:c.5864+145_5864+177del	XP_011516350.1:n.5864+145_5864+177del
XM_011518049.2:c.4304+145_4304+177del	XP_011516351.1:n.4304+145_4304+177del
XM_017015173.1:c.5864+145_5864+177del	XP_016870662.1:n.5864+145_5864+177del
XM_017015174.1:c.5930+145_5930+177del	XP_016870663.1:n.5930+145_5930+177del
NM_001190458.2:c.5768+145_5768+177del	NP_001177387.1:n.5768+145_5768+177del
NM_001193536.2:c.5864+145_5864+177del	NP_001180465.1:n.5864+145_5864+177del
NM_203447.4:c.6068+145_6068+177del MANE Select	NP_982272.2:n.6068+145_6068+177del