Canonical Allele Identifier: CA10839566

Gene: DOCK7

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.62487702G>A , CM000663.2:g.62487702G>A	GRCh38
NC_000001.10:g.62953373G>A , CM000663.1:g.62953373G>A	GRCh37
NC_000001.9:g.62725961G>A	NCBI36
NG_033073.1:g.205667C>T
NG_033073.2:g.205667C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001367561.1:c.5494-290C>T MANE Select	NP_001354490.1:n.5494-290C>T
ENST00000635253.2:c.5494-290C>T MANE Select	ENSP00000489124.1:n.5494-290C>T
NM_001271999.1:c.5466+1232C>T	NP_001258928.1:n.5466+1232C>T
NM_001271999.2:c.5466+1232C>T	NP_001258928.1:n.5466+1232C>T
NM_001272000.1:c.5374-290C>T	NP_001258929.1:n.5374-290C>T
NM_001272000.2:c.5374-290C>T	NP_001258929.1:n.5374-290C>T
NM_001272001.1:c.5373+1232C>T	NP_001258930.1:n.5373+1232C>T
NM_001272001.2:c.5373+1232C>T	NP_001258930.1:n.5373+1232C>T
NM_001330614.1:c.5467-290C>T	NP_001317543.1:n.5467-290C>T
NM_001330614.2:c.5467-290C>T	NP_001317543.1:n.5467-290C>T
NM_033407.3:c.5401-290C>T	NP_212132.2:n.5401-290C>T
NM_033407.4:c.5401-290C>T	NP_212132.2:n.5401-290C>T
ENST00000251157.10:c.5467-290C>T	ENSP00000251157.6:n.5467-290C>T
ENST00000340370.10:c.5401-290C>T	ENSP00000340742.5:n.5401-290C>T
ENST00000454575.6:c.5466+1232C>T	ENSP00000413583.2:n.5466+1232C>T
ENST00000634264.1:c.5374-290C>T	ENSP00000489284.1:n.5374-290C>T
ENST00000635088.1:c.190-250C>T	ENSP00000489412.1:n.190-250C>T
ENST00000635123.1:c.5373+1232C>T	ENSP00000489499.1:n.5373+1232C>T
ENST00000635253.1:c.5494-290C>T	ENSP00000489124.1:n.5494-290C>T
ENST00000635983.1:n.3135C>T
ENST00000637208.1:c.*3587-290C>T	ENSP00000490079.1:n.*3587-290C>T
ENST00000637255.1:c.2766+1232C>T	ENSP00000490888.1:n.2766+1232C>T
XM_005271292.1:c.5467-290C>T	XP_005271349.1:n.5467-290C>T
XM_011542326.1:c.5494-290C>T	XP_011540628.1:n.5494-290C>T
XM_011542326.2:c.5494-290C>T	XP_011540628.1:n.5494-290C>T
XM_011542327.1:c.5493+1232C>T	XP_011540629.1:n.5493+1232C>T
XM_011542327.2:c.5493+1232C>T	XP_011540629.1:n.5493+1232C>T
XM_011542328.1:c.5493+1232C>T	XP_011540630.1:n.5493+1232C>T
XM_011542328.2:c.5493+1232C>T	XP_011540630.1:n.5493+1232C>T
XM_011542329.1:c.5494-290C>T	XP_011540631.1:n.5494-290C>T
XM_011542330.1:c.5494-290C>T	XP_011540632.1:n.5494-290C>T
XM_011542330.2:c.5494-290C>T	XP_011540632.1:n.5494-290C>T
XM_017002639.1:c.5400+1232C>T	XP_016858128.1:n.5400+1232C>T
XM_017002640.1:c.5494-290C>T	XP_016858129.1:n.5494-290C>T