Canonical Allele Identifier: CA2519665286

Gene: GRIN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763410_9763411insGTGCCCTGCT , CM000678.2:g.9763410_9763411insGTGCCCTGCT	GRCh38
NC_000016.9:g.9857267_9857268insGTGCCCTGCT , CM000678.1:g.9857267_9857268insGTGCCCTGCT	GRCh37
NC_000016.8:g.9764768_9764769insGTGCCCTGCT	NCBI36
NG_011812.1:g.424344_424345insAGCAGGGCAC
NG_011812.2:g.424344_424345insAGCAGGGCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.4133_4134insAGCAGGGCAC MANE Select	ENSP00000332549.3:p.Ile1379AlafsTer23
ENST00000535259.6:c.3319_3320insAGCAGGGCAC	ENSP00000441572.3:p.Leu1107Ter
ENST00000636273.2:n.3383_3384insAGCAGGGCAC
ENST00000674742.1:c.3662_3663insAGCAGGGCAC	ENSP00000502200.1:p.Ile1222AlafsTer23
ENST00000675398.1:c.*1503_*1504insAGCAGGGCAC	ENSP00000502752.1:n.*1503_*1504insAGCAGGGCAC
ENST00000330684.3:c.4133_4134insAGCAGGGCAC	ENSP00000332549.3:p.Ile1379AlafsTer23
ENST00000396573.6:c.4133_4134insAGCAGGGCAC	ENSP00000379818.2:p.Ile1379AlafsTer23
ENST00000396575.6:c.3722_3723insAGCAGGGCAC	ENSP00000379820.3:p.Ile1242AlafsTer23
ENST00000461292.3:n.3429_3430insAGCAGGGCAC
ENST00000535259.5:c.3379_3380insAGCAGGGCAC	ENSP00000441572.2:p.Leu1127Ter
ENST00000562109.5:c.3790_3791insAGCAGGGCAC	ENSP00000454998.1:p.Leu1264Ter
NM_000833.4:c.4133_4134insAGCAGGGCAC	NP_000824.1:p.Ile1379AlafsTer23
NM_001134407.2:c.4133_4134insAGCAGGGCAC	NP_001127879.1:p.Ile1379AlafsTer23
NM_001134408.2:c.3790_3791insAGCAGGGCAC	NP_001127880.1:p.Leu1264Ter
XM_011522456.1:c.3974_3975insAGCAGGGCAC	XP_011520758.1:p.Ile1326AlafsTer23
XM_011522457.1:c.3875_3876insAGCAGGGCAC	XP_011520759.1:p.Ile1293AlafsTer23
XM_011522458.1:c.3662_3663insAGCAGGGCAC	XP_011520760.1:p.Ile1222AlafsTer23
XM_011522459.1:c.3662_3663insAGCAGGGCAC	XP_011520761.1:p.Ile1222AlafsTer23
XM_011522460.1:c.3662_3663insAGCAGGGCAC	XP_011520762.1:p.Ile1222AlafsTer23
XM_011522461.1:c.3790_3791insAGCAGGGCAC	XP_011520763.1:p.Leu1264Ter
XM_011522458.3:c.3662_3663insAGCAGGGCAC	XP_011520760.1:p.Ile1222AlafsTer23
XM_011522461.3:c.3790_3791insAGCAGGGCAC	XP_011520763.1:p.Leu1264Ter
XM_017023172.1:c.4289_4290insAGCAGGGCAC	XP_016878661.1:p.Ile1431AlafsTer23
XM_017023173.1:c.3946_3947insAGCAGGGCAC	XP_016878662.1:p.Leu1316Ter
NM_001134407.3:c.4133_4134insAGCAGGGCAC MANE Select	NP_001127879.1:p.Ile1379AlafsTer23
NM_000833.5:c.4133_4134insAGCAGGGCAC	NP_000824.1:p.Ile1379AlafsTer23