Canonical Allele Identifier: CA2689211739

Gene: DOCK8

Linked Data

• gnomAD v4: 9-452241-CCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.452245_452247del , CM000671.2:g.452245_452247del	GRCh38
NC_000009.11:g.452245_452247del , CM000671.1:g.452245_452247del	GRCh37
NC_000009.10:g.442245_442247del	NCBI36
NG_017007.1:g.242381_242383del , LRG_196:g.242381_242383del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5768+128_5768+130del	ENSP00000371766.2:n.5768+128_5768+130del
ENST00000683406.1:n.2543+128_2543+130del
ENST00000684637.1:n.1749+128_1749+130del
ENST00000685949.1:n.4856+128_4856+130del
ENST00000432829.7:c.6068+128_6068+130del MANE Select	ENSP00000394888.3:n.6068+128_6068+130del
ENST00000382329.1:c.4469+128_4469+130del	ENSP00000371766.1:n.4469+128_4469+130del
ENST00000432829.6:c.6068+128_6068+130del	ENSP00000394888.3:n.6068+128_6068+130del
ENST00000453981.5:c.5864+128_5864+130del	ENSP00000408464.2:n.5864+128_5864+130del
ENST00000469391.5:c.5768+128_5768+130del	ENSP00000419438.1:n.5768+128_5768+130del
ENST00000495184.5:n.8023+128_8023+130del
NM_001190458.1:c.5768+128_5768+130del	NP_001177387.1:n.5768+128_5768+130del
NM_001193536.1:c.5864+128_5864+130del	NP_001180465.1:n.5864+128_5864+130del
NM_203447.3:c.6068+128_6068+130del , LRG_196t1:c.6068+128_6068+130del	NP_982272.2:n.6068+128_6068+130del
XM_011518045.1:c.5768+128_5768+130del	XP_011516347.1:n.5768+128_5768+130del
XM_011518046.1:c.5930+128_5930+130del	XP_011516348.1:n.5930+128_5930+130del
XM_011518047.1:c.5864+128_5864+130del	XP_011516349.1:n.5864+128_5864+130del
XM_011518048.1:c.5864+128_5864+130del	XP_011516350.1:n.5864+128_5864+130del
XM_011518049.1:c.4304+128_4304+130del	XP_011516351.1:n.4304+128_4304+130del
XM_011518045.3:c.5768+128_5768+130del	XP_011516347.1:n.5768+128_5768+130del
XM_011518046.2:c.5930+128_5930+130del	XP_011516348.1:n.5930+128_5930+130del
XM_011518047.3:c.5864+128_5864+130del	XP_011516349.1:n.5864+128_5864+130del
XM_011518048.2:c.5864+128_5864+130del	XP_011516350.1:n.5864+128_5864+130del
XM_011518049.2:c.4304+128_4304+130del	XP_011516351.1:n.4304+128_4304+130del
XM_017015173.1:c.5864+128_5864+130del	XP_016870662.1:n.5864+128_5864+130del
XM_017015174.1:c.5930+128_5930+130del	XP_016870663.1:n.5930+128_5930+130del
NM_001190458.2:c.5768+128_5768+130del	NP_001177387.1:n.5768+128_5768+130del
NM_001193536.2:c.5864+128_5864+130del	NP_001180465.1:n.5864+128_5864+130del
NM_203447.4:c.6068+128_6068+130del MANE Select	NP_982272.2:n.6068+128_6068+130del