Canonical Allele Identifier: CA974532284

Gene: GRIN2A

Linked Data

• gnomAD v3: 16-9764205-AGGGGAGC-A
• gnomAD v4: 16-9764205-AGGGGAGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764206_9764212del , CM000678.2:g.9764206_9764212del	GRCh38
NC_000016.9:g.9858063_9858069del , CM000678.1:g.9858063_9858069del	GRCh37
NC_000016.8:g.9765564_9765570del	NCBI36
NG_011812.1:g.423543_423549del
NG_011812.2:g.423543_423549del

Transcript Alleles

HGVS	Amino-acid change
ENST00000330684.4:c.3332_3338del MANE Select	ENSP00000332549.3:p.Ser1111IlefsTer8
ENST00000535259.6:c.2861_2867del	ENSP00000441572.3:p.Ser954IlefsTer8
ENST00000636273.2:n.2925_2931del
ENST00000674742.1:c.2861_2867del	ENSP00000502200.1:p.Ser954IlefsTer8
ENST00000675398.1:c.*702_*708del	ENSP00000502752.1:n.*702_*708del
ENST00000330684.3:c.3332_3338del	ENSP00000332549.3:p.Ser1111IlefsTer8
ENST00000396573.6:c.3332_3338del	ENSP00000379818.2:p.Ser1111IlefsTer8
ENST00000396575.6:c.2921_2927del	ENSP00000379820.3:p.Ser974IlefsTer8
ENST00000461292.3:n.2971_2977del
ENST00000535259.5:c.2921_2927del	ENSP00000441572.2:p.Ser974IlefsTer8
ENST00000562109.5:c.3332_3338del	ENSP00000454998.1:p.Ser1111IlefsTer8
NM_000833.4:c.3332_3338del	NP_000824.1:p.Ser1111IlefsTer8
NM_001134407.2:c.3332_3338del	NP_001127879.1:p.Ser1111IlefsTer8
NM_001134408.2:c.3332_3338del	NP_001127880.1:p.Ser1111IlefsTer8
XM_011522456.1:c.3173_3179del	XP_011520758.1:p.Ser1058IlefsTer8
XM_011522457.1:c.3074_3080del	XP_011520759.1:p.Ser1025IlefsTer8
XM_011522458.1:c.2861_2867del	XP_011520760.1:p.Ser954IlefsTer8
XM_011522459.1:c.2861_2867del	XP_011520761.1:p.Ser954IlefsTer8
XM_011522460.1:c.2861_2867del	XP_011520762.1:p.Ser954IlefsTer8
XM_011522461.1:c.3332_3338del	XP_011520763.1:p.Ser1111IlefsTer8
XM_011522458.3:c.2861_2867del	XP_011520760.1:p.Ser954IlefsTer8
XM_011522461.3:c.3332_3338del	XP_011520763.1:p.Ser1111IlefsTer8
XM_017023172.1:c.3488_3494del	XP_016878661.1:p.Ser1163IlefsTer8
XM_017023173.1:c.3488_3494del	XP_016878662.1:p.Ser1163IlefsTer8
NM_001134407.3:c.3332_3338del MANE Select	NP_001127879.1:p.Ser1111IlefsTer8
NM_000833.5:c.3332_3338del	NP_000824.1:p.Ser1111IlefsTer8