Canonical Allele Identifier: CA864138584

Gene: DOCK8

Linked Data

• dbSNP Id: rs1440318035
• gnomAD v4: 9-414847-AC-A
• MyVariant Identifiers: chr9:g.414848del (hg19) ; chr9:g.414848del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.414850del , CM000671.2:g.414850del	GRCh38
NC_000009.11:g.414850del , CM000671.1:g.414850del	GRCh37
NC_000009.10:g.404850del	NCBI36
NG_017007.1:g.204986del , LRG_196:g.204986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.3299del	ENSP00000371766.2:p.Pro1100HisfsTer8
ENST00000683406.1:n.120del
ENST00000685949.1:n.2387del
ENST00000432829.7:c.3599del MANE Select	ENSP00000394888.3:p.Pro1200HisfsTer8
ENST00000382329.1:c.2000del	ENSP00000371766.1:p.Pro667HisfsTer8
ENST00000432829.6:c.3599del	ENSP00000394888.3:p.Pro1200HisfsTer8
ENST00000453981.5:c.3395del	ENSP00000408464.2:p.Pro1132HisfsTer8
ENST00000469391.5:c.3299del	ENSP00000419438.1:p.Pro1100HisfsTer8
ENST00000495184.5:n.5554del
NM_001190458.1:c.3299del	NP_001177387.1:p.Pro1100HisfsTer8
NM_001193536.1:c.3395del	NP_001180465.1:p.Pro1132HisfsTer8
NM_203447.3:c.3599del , LRG_196t1:c.3599del	NP_982272.2:p.Pro1200HisfsTer8
XM_011518045.1:c.3299del	XP_011516347.1:p.Pro1100HisfsTer8
XM_011518046.1:c.3461del	XP_011516348.1:p.Pro1154HisfsTer8
XM_011518047.1:c.3395del	XP_011516349.1:p.Pro1132HisfsTer8
XM_011518048.1:c.3395del	XP_011516350.1:p.Pro1132HisfsTer8
XM_011518049.1:c.1835del	XP_011516351.1:p.Pro612HisfsTer8
XM_011518045.3:c.3299del	XP_011516347.1:p.Pro1100HisfsTer8
XM_011518046.2:c.3461del	XP_011516348.1:p.Pro1154HisfsTer8
XM_011518047.3:c.3395del	XP_011516349.1:p.Pro1132HisfsTer8
XM_011518048.2:c.3395del	XP_011516350.1:p.Pro1132HisfsTer8
XM_011518049.2:c.1835del	XP_011516351.1:p.Pro612HisfsTer8
XM_017015173.1:c.3395del	XP_016870662.1:p.Pro1132HisfsTer8
XM_017015174.1:c.3461del	XP_016870663.1:p.Pro1154HisfsTer8
NM_001190458.2:c.3299del	NP_001177387.1:p.Pro1100HisfsTer8
NM_001193536.2:c.3395del	NP_001180465.1:p.Pro1132HisfsTer8
NM_203447.4:c.3599del MANE Select	NP_982272.2:p.Pro1200HisfsTer8