Canonical Allele Identifier: CA585875467

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.370226A>G , CM000671.2:g.370226A>G	GRCh38
NC_000009.11:g.370226A>G , CM000671.1:g.370226A>G	GRCh37
NC_000009.10:g.360226A>G	NCBI36
NG_017007.1:g.160362A>G , LRG_196:g.160362A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_203447.4:c.1798-4A>G MANE Select	NP_982272.2:n.1798-4A>G
ENST00000432829.7:c.1798-4A>G MANE Select	ENSP00000394888.3:n.1798-4A>G
NM_001190458.1:c.1594-4A>G	NP_001177387.1:n.1594-4A>G
NM_001190458.2:c.1594-4A>G	NP_001177387.1:n.1594-4A>G
NM_001193536.1:c.1594-4A>G	NP_001180465.1:n.1594-4A>G
NM_001193536.2:c.1594-4A>G	NP_001180465.1:n.1594-4A>G
NM_203447.3:c.1798-4A>G , LRG_196t1:c.1798-4A>G	NP_982272.2:n.1798-4A>G
ENST00000382329.1:c.199-4A>G	ENSP00000371766.1:n.199-4A>G
ENST00000382329.2:c.1594-4A>G	ENSP00000371766.2:n.1594-4A>G
ENST00000382331.5:c.-158-4A>G	ENSP00000371768.1:n.-158-4A>G
ENST00000382331.6:n.434-4A>G
ENST00000432829.6:c.1798-4A>G	ENSP00000394888.3:n.1798-4A>G
ENST00000453981.5:c.1594-4A>G	ENSP00000408464.2:n.1594-4A>G
ENST00000469391.5:c.1594-4A>G	ENSP00000419438.1:n.1594-4A>G
ENST00000483757.5:c.*1273-4A>G	ENSP00000417691.1:n.*1273-4A>G
ENST00000483757.6:c.*485-4A>G	ENSP00000417691.2:n.*485-4A>G
ENST00000495184.5:n.3749A>G
ENST00000682260.1:n.563A>G
ENST00000685949.1:n.586-4A>G
XM_011518045.1:c.1594-4A>G	XP_011516347.1:n.1594-4A>G
XM_011518045.3:c.1594-4A>G	XP_011516347.1:n.1594-4A>G
XM_011518046.1:c.1660-4A>G	XP_011516348.1:n.1660-4A>G
XM_011518046.2:c.1660-4A>G	XP_011516348.1:n.1660-4A>G
XM_011518047.1:c.1594-4A>G	XP_011516349.1:n.1594-4A>G
XM_011518047.3:c.1594-4A>G	XP_011516349.1:n.1594-4A>G
XM_011518048.1:c.1594-4A>G	XP_011516350.1:n.1594-4A>G
XM_011518048.2:c.1594-4A>G	XP_011516350.1:n.1594-4A>G
XM_011518049.1:c.34-4A>G	XP_011516351.1:n.34-4A>G
XM_011518049.2:c.34-4A>G	XP_011516351.1:n.34-4A>G
XM_017015173.1:c.1594-4A>G	XP_016870662.1:n.1594-4A>G
XM_017015174.1:c.1660-4A>G	XP_016870663.1:n.1660-4A>G