Canonical Allele Identifier: CA372761649

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.371568T>G , CM000671.2:g.371568T>G	GRCh38
NC_000009.11:g.371568T>G , CM000671.1:g.371568T>G	GRCh37
NC_000009.10:g.361568T>G	NCBI36
NG_017007.1:g.161704T>G , LRG_196:g.161704T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_203447.4:c.2007+2T>G MANE Select	NP_982272.2:n.2007+2T>G
ENST00000432829.7:c.2007+2T>G MANE Select	ENSP00000394888.3:n.2007+2T>G
NM_001190458.1:c.1803+2T>G	NP_001177387.1:n.1803+2T>G
NM_001190458.2:c.1803+2T>G	NP_001177387.1:n.1803+2T>G
NM_001193536.1:c.1803+2T>G	NP_001180465.1:n.1803+2T>G
NM_001193536.2:c.1803+2T>G	NP_001180465.1:n.1803+2T>G
NM_203447.3:c.2007+2T>G , LRG_196t1:c.2007+2T>G	NP_982272.2:n.2007+2T>G
ENST00000382329.1:c.408+2T>G	ENSP00000371766.1:n.408+2T>G
ENST00000382329.2:c.1803+2T>G	ENSP00000371766.2:n.1803+2T>G
ENST00000382331.5:c.-87-617T>G	ENSP00000371768.1:n.-87-617T>G
ENST00000382331.6:n.505-617T>G
ENST00000432829.6:c.2007+2T>G	ENSP00000394888.3:n.2007+2T>G
ENST00000453981.5:c.1803+2T>G	ENSP00000408464.2:n.1803+2T>G
ENST00000469391.5:c.1803+2T>G	ENSP00000419438.1:n.1803+2T>G
ENST00000483757.5:c.*1482+2T>G	ENSP00000417691.1:n.*1482+2T>G
ENST00000483757.6:c.*694+2T>G	ENSP00000417691.2:n.*694+2T>G
ENST00000495184.5:n.3962+2T>G
ENST00000682260.1:n.1903+2T>G
ENST00000685949.1:n.795+2T>G
XM_011518045.1:c.1803+2T>G	XP_011516347.1:n.1803+2T>G
XM_011518045.3:c.1803+2T>G	XP_011516347.1:n.1803+2T>G
XM_011518046.1:c.1869+2T>G	XP_011516348.1:n.1869+2T>G
XM_011518046.2:c.1869+2T>G	XP_011516348.1:n.1869+2T>G
XM_011518047.1:c.1803+2T>G	XP_011516349.1:n.1803+2T>G
XM_011518047.3:c.1803+2T>G	XP_011516349.1:n.1803+2T>G
XM_011518048.1:c.1803+2T>G	XP_011516350.1:n.1803+2T>G
XM_011518048.2:c.1803+2T>G	XP_011516350.1:n.1803+2T>G
XM_011518049.1:c.243+2T>G	XP_011516351.1:n.243+2T>G
XM_011518049.2:c.243+2T>G	XP_011516351.1:n.243+2T>G
XM_017015173.1:c.1803+2T>G	XP_016870662.1:n.1803+2T>G
XM_017015174.1:c.1869+2T>G	XP_016870663.1:n.1869+2T>G