Canonical Allele Identifier: CA5743227

Gene: INSYN2A DOCK1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.127176379G>C , CM000672.2:g.127176379G>C	GRCh38
NC_000010.10:g.128974643G>C , CM000672.1:g.128974643G>C	GRCh37
NC_000010.9:g.128864633G>C	NCBI36
NG_033919.1:g.275926G>C
NG_033919.2:g.275926G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001039762.3:c.17C>G (INSYN2A) MANE Select	NP_001034851.1:p.Thr6Ser
NM_001290223.2:c.2847+48615G>C (DOCK1) MANE Select	NP_001277152.2:n.2847+48615G>C
ENST00000522781.6:c.17C>G (INSYN2A) MANE Select	ENSP00000429763.1:p.Thr6Ser
ENST00000623213.2:c.2847+48615G>C (DOCK1) MANE Select	ENSP00000485033.1:n.2847+48615G>C
NM_001039762.2:c.17C>G (INSYN2A)	NP_001034851.1:p.Thr6Ser
NM_001290223.1:c.2847+48615G>C (DOCK1)	NP_001277152.1:n.2847+48615G>C
NM_001377543.1:c.2784+48615G>C (DOCK1)	NP_001364472.1:n.2784+48615G>C
NM_001377544.1:c.2820+48615G>C (DOCK1)	NP_001364473.1:n.2820+48615G>C
NM_001377546.1:c.2847+48615G>C (DOCK1)	NP_001364475.1:n.2847+48615G>C
NM_001377547.1:c.2721+48615G>C (DOCK1)	NP_001364476.1:n.2721+48615G>C
NM_001377548.1:c.2700+48615G>C (DOCK1)	NP_001364477.1:n.2700+48615G>C
NM_001377550.1:c.2685+48615G>C (DOCK1)	NP_001364479.1:n.2685+48615G>C
NM_001377553.1:c.2784+48615G>C (DOCK1)	NP_001364482.1:n.2784+48615G>C
NM_001377554.1:c.2631+48615G>C (DOCK1)	NP_001364483.1:n.2631+48615G>C
NM_001377556.1:c.2784+48615G>C (DOCK1)	NP_001364485.1:n.2784+48615G>C
NM_001377558.1:c.2577+48615G>C (DOCK1)	NP_001364487.1:n.2577+48615G>C
NM_001377560.1:c.1992+48615G>C (DOCK1)	NP_001364489.1:n.1992+48615G>C
NM_001377561.1:c.2847+48615G>C (DOCK1)	NP_001364490.1:n.2847+48615G>C
NM_001380.4:c.2784+48615G>C (DOCK1)	NP_001371.1:n.2784+48615G>C
NM_001380.5:c.2784+48615G>C (DOCK1)	NP_001371.2:n.2784+48615G>C
ENST00000280333.9:c.2784+48615G>C (DOCK1)	ENSP00000280333.6:n.2784+48615G>C
ENST00000424811.2:c.17C>G (INSYN2A)	ENSP00000428730.1:p.Thr6Ser
ENST00000522781.5:c.17C>G (INSYN2A)	ENSP00000429763.1:p.Thr6Ser
ENST00000614311.4:c.17C>G (INSYN2A)	ENSP00000479733.1:p.Thr6Ser
ENST00000623213.1:c.2847+48615G>C (DOCK1)	ENSP00000485033.1:n.2847+48615G>C
XM_005252694.2:c.17C>G (INSYN2A)	XP_005252751.1:p.Thr6Ser
XM_005252694.4:c.17C>G (INSYN2A)	XP_005252751.1:p.Thr6Ser
XM_011539421.1:c.2964+48615G>C (DOCK1)	XP_011537723.1:n.2964+48615G>C
XM_011539422.1:c.2913+48615G>C (DOCK1)	XP_011537724.1:n.2913+48615G>C
XM_011539422.3:c.2913+48615G>C (DOCK1)	XP_011537724.1:n.2913+48615G>C
XM_011539423.1:c.2901+48615G>C (DOCK1)	XP_011537725.1:n.2901+48615G>C
XM_011539424.1:c.2829+48615G>C (DOCK1)	XP_011537726.1:n.2829+48615G>C
XM_011539425.1:c.2964+48615G>C (DOCK1)	XP_011537727.1:n.2964+48615G>C
XM_011540064.1:c.17C>G (INSYN2A)	XP_011538366.1:p.Thr6Ser
XM_011540065.1:c.17C>G (INSYN2A)	XP_011538367.1:p.Thr6Ser
XM_011540066.1:c.17C>G (INSYN2A)	XP_011538368.1:p.Thr6Ser
XM_017015813.2:c.2850+48615G>C (DOCK1)	XP_016871302.1:n.2850+48615G>C
XM_017015814.1:c.2913+48615G>C (DOCK1)	XP_016871303.1:n.2913+48615G>C
XM_017015815.1:c.2847+48615G>C (DOCK1)	XP_016871304.1:n.2847+48615G>C
XM_017016537.2:c.17C>G (INSYN2A)	XP_016872026.1:p.Thr6Ser
XM_017016538.2:c.17C>G (INSYN2A)	XP_016872027.1:p.Thr6Ser
XM_017016539.2:c.17C>G (INSYN2A)	XP_016872028.1:p.Thr6Ser
XM_017016540.2:c.17C>G (INSYN2A)	XP_016872029.1:p.Thr6Ser
XM_017016541.1:c.17C>G (INSYN2A)	XP_016872030.1:p.Thr6Ser
XM_017016542.2:c.17C>G (INSYN2A)	XP_016872031.1:p.Thr6Ser
XM_017016543.1:c.17C>G (INSYN2A)	XP_016872032.1:p.Thr6Ser
XM_024447859.1:c.327+48615G>C (DOCK1)	XP_024303627.1:n.327+48615G>C