Canonical Allele Identifier: CA585877878

Gene: DOCK8

Linked Data

• dbSNP Id: rs1564034022
• gnomAD v2: 9-414511-ATAGTTCTATCCTGTATTGCTTGGTTTTCCAGGGTTAGAACACAGGCAGTCTGTTTCTGGATTCTATG-A
• gnomAD v3: 9-414511-ATAGTTCTATCCTGTATTGCTTGGTTTTCCAGGGTTAGAACACAGGCAGTCTGTTTCTGGATTCTATG-A
• gnomAD v4: 9-414511-ATAGTTCTATCCTGTATTGCTTGGTTTTCCAGGGTTAGAACACAGGCAGTCTGTTTCTGGATTCTATG-A
• MyVariant Identifiers: chr9:g.414512_414578del (hg19) ; chr9:g.414512_414578del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.414591_414657del , CM000671.2:g.414591_414657del	GRCh38
NC_000009.11:g.414591_414657del , CM000671.1:g.414591_414657del	GRCh37
NC_000009.10:g.404591_404657del	NCBI36
NG_017007.1:g.204727_204793del , LRG_196:g.204727_204793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.3231-191_3231-125del	ENSP00000371766.2:n.3231-191_3231-125del
ENST00000683406.1:n.52-191_52-125del
ENST00000685949.1:n.2319-191_2319-125del
ENST00000432829.7:c.3531-191_3531-125del MANE Select	ENSP00000394888.3:n.3531-191_3531-125del
ENST00000382329.1:c.1932-191_1932-125del	ENSP00000371766.1:n.1932-191_1932-125del
ENST00000432829.6:c.3531-191_3531-125del	ENSP00000394888.3:n.3531-191_3531-125del
ENST00000453981.5:c.3327-191_3327-125del	ENSP00000408464.2:n.3327-191_3327-125del
ENST00000469391.5:c.3231-191_3231-125del	ENSP00000419438.1:n.3231-191_3231-125del
ENST00000495184.5:n.5486-191_5486-125del
NM_001190458.1:c.3231-191_3231-125del	NP_001177387.1:n.3231-191_3231-125del
NM_001193536.1:c.3327-191_3327-125del	NP_001180465.1:n.3327-191_3327-125del
NM_203447.3:c.3531-191_3531-125del , LRG_196t1:c.3531-191_3531-125del	NP_982272.2:n.3531-191_3531-125del
XM_011518045.1:c.3231-191_3231-125del	XP_011516347.1:n.3231-191_3231-125del
XM_011518046.1:c.3393-191_3393-125del	XP_011516348.1:n.3393-191_3393-125del
XM_011518047.1:c.3327-191_3327-125del	XP_011516349.1:n.3327-191_3327-125del
XM_011518048.1:c.3327-191_3327-125del	XP_011516350.1:n.3327-191_3327-125del
XM_011518049.1:c.1767-191_1767-125del	XP_011516351.1:n.1767-191_1767-125del
XM_011518045.3:c.3231-191_3231-125del	XP_011516347.1:n.3231-191_3231-125del
XM_011518046.2:c.3393-191_3393-125del	XP_011516348.1:n.3393-191_3393-125del
XM_011518047.3:c.3327-191_3327-125del	XP_011516349.1:n.3327-191_3327-125del
XM_011518048.2:c.3327-191_3327-125del	XP_011516350.1:n.3327-191_3327-125del
XM_011518049.2:c.1767-191_1767-125del	XP_011516351.1:n.1767-191_1767-125del
XM_017015173.1:c.3327-191_3327-125del	XP_016870662.1:n.3327-191_3327-125del
XM_017015174.1:c.3393-191_3393-125del	XP_016870663.1:n.3393-191_3393-125del
NM_001190458.2:c.3231-191_3231-125del	NP_001177387.1:n.3231-191_3231-125del
NM_001193536.2:c.3327-191_3327-125del	NP_001180465.1:n.3327-191_3327-125del
NM_203447.4:c.3531-191_3531-125del MANE Select	NP_982272.2:n.3531-191_3531-125del