Canonical Allele Identifier: CA974532105

Gene: GRIN2A

Linked Data

• gnomAD v3: 16-9764194-ATCTTGTC-A
• gnomAD v4: 16-9764194-ATCTTGTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764198_9764204del , CM000678.2:g.9764198_9764204del	GRCh38
NC_000016.9:g.9858055_9858061del , CM000678.1:g.9858055_9858061del	GRCh37
NC_000016.8:g.9765556_9765562del	NCBI36
NG_011812.1:g.423554_423560del
NG_011812.2:g.423554_423560del

Transcript Alleles

HGVS	Amino-acid change
ENST00000330684.4:c.3343_3349del MANE Select	ENSP00000332549.3:p.Asp1115SerfsTer4
ENST00000535259.6:c.2872_2878del	ENSP00000441572.3:p.Asp958SerfsTer4
ENST00000636273.2:n.2936_2942del
ENST00000674742.1:c.2872_2878del	ENSP00000502200.1:p.Asp958SerfsTer4
ENST00000675398.1:c.*713_*719del	ENSP00000502752.1:n.*713_*719del
ENST00000330684.3:c.3343_3349del	ENSP00000332549.3:p.Asp1115SerfsTer4
ENST00000396573.6:c.3343_3349del	ENSP00000379818.2:p.Asp1115SerfsTer4
ENST00000396575.6:c.2932_2938del	ENSP00000379820.3:p.Asp978SerfsTer4
ENST00000461292.3:n.2982_2988del
ENST00000535259.5:c.2932_2938del	ENSP00000441572.2:p.Asp978SerfsTer4
ENST00000562109.5:c.3343_3349del	ENSP00000454998.1:p.Asp1115SerfsTer4
NM_000833.4:c.3343_3349del	NP_000824.1:p.Asp1115SerfsTer4
NM_001134407.2:c.3343_3349del	NP_001127879.1:p.Asp1115SerfsTer4
NM_001134408.2:c.3343_3349del	NP_001127880.1:p.Asp1115SerfsTer4
XM_011522456.1:c.3184_3190del	XP_011520758.1:p.Asp1062SerfsTer4
XM_011522457.1:c.3085_3091del	XP_011520759.1:p.Asp1029SerfsTer4
XM_011522458.1:c.2872_2878del	XP_011520760.1:p.Asp958SerfsTer4
XM_011522459.1:c.2872_2878del	XP_011520761.1:p.Asp958SerfsTer4
XM_011522460.1:c.2872_2878del	XP_011520762.1:p.Asp958SerfsTer4
XM_011522461.1:c.3343_3349del	XP_011520763.1:p.Asp1115SerfsTer4
XM_011522458.3:c.2872_2878del	XP_011520760.1:p.Asp958SerfsTer4
XM_011522461.3:c.3343_3349del	XP_011520763.1:p.Asp1115SerfsTer4
XM_017023172.1:c.3499_3505del	XP_016878661.1:p.Asp1167SerfsTer4
XM_017023173.1:c.3499_3505del	XP_016878662.1:p.Asp1167SerfsTer4
NM_001134407.3:c.3343_3349del MANE Select	NP_001127879.1:p.Asp1115SerfsTer4
NM_000833.5:c.3343_3349del	NP_000824.1:p.Asp1115SerfsTer4