Canonical Allele Identifier: CA974532205

Gene: GRIN2A

Linked Data

• gnomAD v3: 16-9764201-CTCTAGGGGA-C
• gnomAD v4: 16-9764201-CTCTAGGGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764202_9764210del , CM000678.2:g.9764202_9764210del	GRCh38
NC_000016.9:g.9858059_9858067del , CM000678.1:g.9858059_9858067del	GRCh37
NC_000016.8:g.9765560_9765568del	NCBI36
NG_011812.1:g.423545_423553del
NG_011812.2:g.423545_423553del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.3334_3342del MANE Select	ENSP00000332549.3:p.Ser1112_Arg1114del
ENST00000535259.6:c.2863_2871del	ENSP00000441572.3:p.Ser955_Arg957del
ENST00000636273.2:n.2927_2935del
ENST00000674742.1:c.2863_2871del	ENSP00000502200.1:p.Ser955_Arg957del
ENST00000675398.1:c.*704_*712del	ENSP00000502752.1:n.*704_*712del
ENST00000330684.3:c.3334_3342del	ENSP00000332549.3:p.Ser1112_Arg1114del
ENST00000396573.6:c.3334_3342del	ENSP00000379818.2:p.Ser1112_Arg1114del
ENST00000396575.6:c.2923_2931del	ENSP00000379820.3:p.Ser975_Arg977del
ENST00000461292.3:n.2973_2981del
ENST00000535259.5:c.2923_2931del	ENSP00000441572.2:p.Ser975_Arg977del
ENST00000562109.5:c.3334_3342del	ENSP00000454998.1:p.Ser1112_Arg1114del
NM_000833.4:c.3334_3342del	NP_000824.1:p.Ser1112_Arg1114del
NM_001134407.2:c.3334_3342del	NP_001127879.1:p.Ser1112_Arg1114del
NM_001134408.2:c.3334_3342del	NP_001127880.1:p.Ser1112_Arg1114del
XM_011522456.1:c.3175_3183del	XP_011520758.1:p.Ser1059_Arg1061del
XM_011522457.1:c.3076_3084del	XP_011520759.1:p.Ser1026_Arg1028del
XM_011522458.1:c.2863_2871del	XP_011520760.1:p.Ser955_Arg957del
XM_011522459.1:c.2863_2871del	XP_011520761.1:p.Ser955_Arg957del
XM_011522460.1:c.2863_2871del	XP_011520762.1:p.Ser955_Arg957del
XM_011522461.1:c.3334_3342del	XP_011520763.1:p.Ser1112_Arg1114del
XM_011522458.3:c.2863_2871del	XP_011520760.1:p.Ser955_Arg957del
XM_011522461.3:c.3334_3342del	XP_011520763.1:p.Ser1112_Arg1114del
XM_017023172.1:c.3490_3498del	XP_016878661.1:p.Ser1164_Arg1166del
XM_017023173.1:c.3490_3498del	XP_016878662.1:p.Ser1164_Arg1166del
NM_001134407.3:c.3334_3342del MANE Select	NP_001127879.1:p.Ser1112_Arg1114del
NM_000833.5:c.3334_3342del	NP_000824.1:p.Ser1112_Arg1114del