Canonical Allele Identifier: CA864138367

Gene: DOCK8

Linked Data

• dbSNP Id: rs1256265096
• gnomAD v3: 9-414707-ACT-A
• gnomAD v4: 9-414707-ACT-A
• MyVariant Identifiers: chr9:g.414708_414709del (hg19) ; chr9:g.414708_414709del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.414710_414711del , CM000671.2:g.414710_414711del	GRCh38
NC_000009.11:g.414710_414711del , CM000671.1:g.414710_414711del	GRCh37
NC_000009.10:g.404710_404711del	NCBI36
NG_017007.1:g.204846_204847del , LRG_196:g.204846_204847del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.3231-72_3231-71del	ENSP00000371766.2:n.3231-72_3231-71del
ENST00000683406.1:n.52-72_52-71del
ENST00000685949.1:n.2319-72_2319-71del
ENST00000432829.7:c.3531-72_3531-71del MANE Select	ENSP00000394888.3:n.3531-72_3531-71del
ENST00000382329.1:c.1932-72_1932-71del	ENSP00000371766.1:n.1932-72_1932-71del
ENST00000432829.6:c.3531-72_3531-71del	ENSP00000394888.3:n.3531-72_3531-71del
ENST00000453981.5:c.3327-72_3327-71del	ENSP00000408464.2:n.3327-72_3327-71del
ENST00000469391.5:c.3231-72_3231-71del	ENSP00000419438.1:n.3231-72_3231-71del
ENST00000495184.5:n.5486-72_5486-71del
NM_001190458.1:c.3231-72_3231-71del	NP_001177387.1:n.3231-72_3231-71del
NM_001193536.1:c.3327-72_3327-71del	NP_001180465.1:n.3327-72_3327-71del
NM_203447.3:c.3531-72_3531-71del , LRG_196t1:c.3531-72_3531-71del	NP_982272.2:n.3531-72_3531-71del
XM_011518045.1:c.3231-72_3231-71del	XP_011516347.1:n.3231-72_3231-71del
XM_011518046.1:c.3393-72_3393-71del	XP_011516348.1:n.3393-72_3393-71del
XM_011518047.1:c.3327-72_3327-71del	XP_011516349.1:n.3327-72_3327-71del
XM_011518048.1:c.3327-72_3327-71del	XP_011516350.1:n.3327-72_3327-71del
XM_011518049.1:c.1767-72_1767-71del	XP_011516351.1:n.1767-72_1767-71del
XM_011518045.3:c.3231-72_3231-71del	XP_011516347.1:n.3231-72_3231-71del
XM_011518046.2:c.3393-72_3393-71del	XP_011516348.1:n.3393-72_3393-71del
XM_011518047.3:c.3327-72_3327-71del	XP_011516349.1:n.3327-72_3327-71del
XM_011518048.2:c.3327-72_3327-71del	XP_011516350.1:n.3327-72_3327-71del
XM_011518049.2:c.1767-72_1767-71del	XP_011516351.1:n.1767-72_1767-71del
XM_017015173.1:c.3327-72_3327-71del	XP_016870662.1:n.3327-72_3327-71del
XM_017015174.1:c.3393-72_3393-71del	XP_016870663.1:n.3393-72_3393-71del
NM_001190458.2:c.3231-72_3231-71del	NP_001177387.1:n.3231-72_3231-71del
NM_001193536.2:c.3327-72_3327-71del	NP_001180465.1:n.3327-72_3327-71del
NM_203447.4:c.3531-72_3531-71del MANE Select	NP_982272.2:n.3531-72_3531-71del