Canonical Allele Identifier: CA2782617063

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377156_377157insACTATAACAGCAACTCAAATT , CM000671.2:g.377156_377157insACTATAACAGCAACTCAAATT	GRCh38
NC_000009.11:g.377156_377157insACTATAACAGCAACTCAAATT , CM000671.1:g.377156_377157insACTATAACAGCAACTCAAATT	GRCh37
NC_000009.10:g.367156_367157insACTATAACAGCAACTCAAATT	NCBI36
NG_017007.1:g.167292_167293insACTATAACAGCAACTCAAATT , LRG_196:g.167292_167293insACTATAACAGCAACTCAAATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2181_2182insACTATAACAGCAACTCAAATT	ENSP00000371766.2:p.Val727_Leu728insThrIleThrAlaThrGlnIle
ENST00000382331.6:n.882_883insACTATAACAGCAACTCAAATT
ENST00000483757.6:c.*1072_*1073insACTATAACAGCAACTCAAATT	ENSP00000417691.2:n.*1072_*1073insACTATAACAGCAACTCAAATT
ENST00000682260.1:n.2281_2282insACTATAACAGCAACTCAAATT
ENST00000685949.1:n.1173_1174insACTATAACAGCAACTCAAATT
ENST00000432829.7:c.2385_2386insACTATAACAGCAACTCAAATT MANE Select	ENSP00000394888.3:p.Val795_Leu796insThrIleThrAlaThrGlnIle
ENST00000382329.1:c.786_787insACTATAACAGCAACTCAAATT	ENSP00000371766.1:p.Val262_Leu263insThrIleThrAlaThrGlnIle
ENST00000382331.5:c.291_292insACTATAACAGCAACTCAAATT	ENSP00000371768.1:p.Val97_Leu98insThrIleThrAlaThrGlnIle
ENST00000432829.6:c.2385_2386insACTATAACAGCAACTCAAATT	ENSP00000394888.3:p.Val795_Leu796insThrIleThrAlaThrGlnIle
ENST00000453981.5:c.2181_2182insACTATAACAGCAACTCAAATT	ENSP00000408464.2:p.Val727_Leu728insThrIleThrAlaThrGlnIle
ENST00000469391.5:c.2181_2182insACTATAACAGCAACTCAAATT	ENSP00000419438.1:p.Val727_Leu728insThrIleThrAlaThrGlnIle
ENST00000483757.5:c.*1860_*1861insACTATAACAGCAACTCAAATT	ENSP00000417691.1:n.*1860_*1861insACTATAACAGCAACTCAAATT
ENST00000495184.5:n.4340_4341insACTATAACAGCAACTCAAATT
NM_001190458.1:c.2181_2182insACTATAACAGCAACTCAAATT	NP_001177387.1:p.Val727_Leu728insThrIleThrAlaThrGlnIle
NM_001193536.1:c.2181_2182insACTATAACAGCAACTCAAATT	NP_001180465.1:p.Val727_Leu728insThrIleThrAlaThrGlnIle
NM_203447.3:c.2385_2386insACTATAACAGCAACTCAAATT , LRG_196t1:c.2385_2386insACTATAACAGCAACTCAAATT	NP_982272.2:p.Val795_Leu796insThrIleThrAlaThrGlnIle
XM_011518045.1:c.2181_2182insACTATAACAGCAACTCAAATT	XP_011516347.1:p.Val727_Leu728insThrIleThrAlaThrGlnIle
XM_011518046.1:c.2247_2248insACTATAACAGCAACTCAAATT	XP_011516348.1:p.Val749_Leu750insThrIleThrAlaThrGlnIle
XM_011518047.1:c.2181_2182insACTATAACAGCAACTCAAATT	XP_011516349.1:p.Val727_Leu728insThrIleThrAlaThrGlnIle
XM_011518048.1:c.2181_2182insACTATAACAGCAACTCAAATT	XP_011516350.1:p.Val727_Leu728insThrIleThrAlaThrGlnIle
XM_011518049.1:c.621_622insACTATAACAGCAACTCAAATT	XP_011516351.1:p.Val207_Leu208insThrIleThrAlaThrGlnIle
XM_011518045.3:c.2181_2182insACTATAACAGCAACTCAAATT	XP_011516347.1:p.Val727_Leu728insThrIleThrAlaThrGlnIle
XM_011518046.2:c.2247_2248insACTATAACAGCAACTCAAATT	XP_011516348.1:p.Val749_Leu750insThrIleThrAlaThrGlnIle
XM_011518047.3:c.2181_2182insACTATAACAGCAACTCAAATT	XP_011516349.1:p.Val727_Leu728insThrIleThrAlaThrGlnIle
XM_011518048.2:c.2181_2182insACTATAACAGCAACTCAAATT	XP_011516350.1:p.Val727_Leu728insThrIleThrAlaThrGlnIle
XM_011518049.2:c.621_622insACTATAACAGCAACTCAAATT	XP_011516351.1:p.Val207_Leu208insThrIleThrAlaThrGlnIle
XM_017015173.1:c.2181_2182insACTATAACAGCAACTCAAATT	XP_016870662.1:p.Val727_Leu728insThrIleThrAlaThrGlnIle
XM_017015174.1:c.2247_2248insACTATAACAGCAACTCAAATT	XP_016870663.1:p.Val749_Leu750insThrIleThrAlaThrGlnIle
NM_001190458.2:c.2181_2182insACTATAACAGCAACTCAAATT	NP_001177387.1:p.Val727_Leu728insThrIleThrAlaThrGlnIle
NM_001193536.2:c.2181_2182insACTATAACAGCAACTCAAATT	NP_001180465.1:p.Val727_Leu728insThrIleThrAlaThrGlnIle
NM_203447.4:c.2385_2386insACTATAACAGCAACTCAAATT MANE Select	NP_982272.2:p.Val795_Leu796insThrIleThrAlaThrGlnIle