Canonical Allele Identifier: CA2782617062

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377155_377156insA , CM000671.2:g.377155_377156insA	GRCh38
NC_000009.11:g.377155_377156insA , CM000671.1:g.377155_377156insA	GRCh37
NC_000009.10:g.367155_367156insA	NCBI36
NG_017007.1:g.167291_167292insA , LRG_196:g.167291_167292insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2180_2181insA	ENSP00000371766.2:p.Leu728AlafsTer?
ENST00000382331.6:n.881_882insA
ENST00000483757.6:c.*1071_*1072insA	ENSP00000417691.2:n.*1071_*1072insA
ENST00000682260.1:n.2280_2281insA
ENST00000685949.1:n.1172_1173insA
ENST00000432829.7:c.2384_2385insA MANE Select	ENSP00000394888.3:p.Leu796AlafsTer?
ENST00000382329.1:c.785_786insA	ENSP00000371766.1:p.Leu263AlafsTer?
ENST00000382331.5:c.290_291insA	ENSP00000371768.1:p.Leu98AlafsTer?
ENST00000432829.6:c.2384_2385insA	ENSP00000394888.3:p.Leu796AlafsTer?
ENST00000453981.5:c.2180_2181insA	ENSP00000408464.2:p.Leu728AlafsTer?
ENST00000469391.5:c.2180_2181insA	ENSP00000419438.1:p.Leu728AlafsTer?
ENST00000483757.5:c.*1859_*1860insA	ENSP00000417691.1:n.*1859_*1860insA
ENST00000495184.5:n.4339_4340insA
NM_001190458.1:c.2180_2181insA	NP_001177387.1:p.Leu728AlafsTer?
NM_001193536.1:c.2180_2181insA	NP_001180465.1:p.Leu728AlafsTer?
NM_203447.3:c.2384_2385insA , LRG_196t1:c.2384_2385insA	NP_982272.2:p.Leu796AlafsTer?
XM_011518045.1:c.2180_2181insA	XP_011516347.1:p.Leu728AlafsTer?
XM_011518046.1:c.2246_2247insA	XP_011516348.1:p.Leu750AlafsTer?
XM_011518047.1:c.2180_2181insA	XP_011516349.1:p.Leu728AlafsTer?
XM_011518048.1:c.2180_2181insA	XP_011516350.1:p.Leu728AlafsTer?
XM_011518049.1:c.620_621insA	XP_011516351.1:p.Leu208AlafsTer?
XM_011518045.3:c.2180_2181insA	XP_011516347.1:p.Leu728AlafsTer?
XM_011518046.2:c.2246_2247insA	XP_011516348.1:p.Leu750AlafsTer?
XM_011518047.3:c.2180_2181insA	XP_011516349.1:p.Leu728AlafsTer?
XM_011518048.2:c.2180_2181insA	XP_011516350.1:p.Leu728AlafsTer?
XM_011518049.2:c.620_621insA	XP_011516351.1:p.Leu208AlafsTer?
XM_017015173.1:c.2180_2181insA	XP_016870662.1:p.Leu728AlafsTer?
XM_017015174.1:c.2246_2247insA	XP_016870663.1:p.Leu750AlafsTer?
NM_001190458.2:c.2180_2181insA	NP_001177387.1:p.Leu728AlafsTer?
NM_001193536.2:c.2180_2181insA	NP_001180465.1:p.Leu728AlafsTer?
NM_203447.4:c.2384_2385insA MANE Select	NP_982272.2:p.Leu796AlafsTer?