Canonical Allele Identifier: CA974532148

Gene: GRIN2A

Linked Data

• gnomAD v3: 16-9764197-T-TCGGTGGTCGCCG
• gnomAD v4: 16-9764197-T-TCGGTGGTCGCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764197_9764198insCGGTGGTCGCCG , CM000678.2:g.9764197_9764198insCGGTGGTCGCCG	GRCh38
NC_000016.9:g.9858054_9858055insCGGTGGTCGCCG , CM000678.1:g.9858054_9858055insCGGTGGTCGCCG	GRCh37
NC_000016.8:g.9765555_9765556insCGGTGGTCGCCG	NCBI36
NG_011812.1:g.423557_423558insCGGCGACCACCG
NG_011812.2:g.423557_423558insCGGCGACCACCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.3346_3347insCGGCGACCACCG MANE Select	ENSP00000332549.3:p.Lys1116delinsThrAlaThrThrGlu
ENST00000535259.6:c.2875_2876insCGGCGACCACCG	ENSP00000441572.3:p.Lys959delinsThrAlaThrThrGlu
ENST00000636273.2:n.2939_2940insCGGCGACCACCG
ENST00000674742.1:c.2875_2876insCGGCGACCACCG	ENSP00000502200.1:p.Lys959delinsThrAlaThrThrGlu
ENST00000675398.1:c.*716_*717insCGGCGACCACCG	ENSP00000502752.1:n.*716_*717insCGGCGACCACCG
ENST00000330684.3:c.3346_3347insCGGCGACCACCG	ENSP00000332549.3:p.Lys1116delinsThrAlaThrThrGlu
ENST00000396573.6:c.3346_3347insCGGCGACCACCG	ENSP00000379818.2:p.Lys1116delinsThrAlaThrThrGlu
ENST00000396575.6:c.2935_2936insCGGCGACCACCG	ENSP00000379820.3:p.Lys979delinsThrAlaThrThrGlu
ENST00000461292.3:n.2985_2986insCGGCGACCACCG
ENST00000535259.5:c.2935_2936insCGGCGACCACCG	ENSP00000441572.2:p.Lys979delinsThrAlaThrThrGlu
ENST00000562109.5:c.3346_3347insCGGCGACCACCG	ENSP00000454998.1:p.Lys1116delinsThrAlaThrThrGlu
NM_000833.4:c.3346_3347insCGGCGACCACCG	NP_000824.1:p.Lys1116delinsThrAlaThrThrGlu
NM_001134407.2:c.3346_3347insCGGCGACCACCG	NP_001127879.1:p.Lys1116delinsThrAlaThrThrGlu
NM_001134408.2:c.3346_3347insCGGCGACCACCG	NP_001127880.1:p.Lys1116delinsThrAlaThrThrGlu
XM_011522456.1:c.3187_3188insCGGCGACCACCG	XP_011520758.1:p.Lys1063delinsThrAlaThrThrGlu
XM_011522457.1:c.3088_3089insCGGCGACCACCG	XP_011520759.1:p.Lys1030delinsThrAlaThrThrGlu
XM_011522458.1:c.2875_2876insCGGCGACCACCG	XP_011520760.1:p.Lys959delinsThrAlaThrThrGlu
XM_011522459.1:c.2875_2876insCGGCGACCACCG	XP_011520761.1:p.Lys959delinsThrAlaThrThrGlu
XM_011522460.1:c.2875_2876insCGGCGACCACCG	XP_011520762.1:p.Lys959delinsThrAlaThrThrGlu
XM_011522461.1:c.3346_3347insCGGCGACCACCG	XP_011520763.1:p.Lys1116delinsThrAlaThrThrGlu
XM_011522458.3:c.2875_2876insCGGCGACCACCG	XP_011520760.1:p.Lys959delinsThrAlaThrThrGlu
XM_011522461.3:c.3346_3347insCGGCGACCACCG	XP_011520763.1:p.Lys1116delinsThrAlaThrThrGlu
XM_017023172.1:c.3502_3503insCGGCGACCACCG	XP_016878661.1:p.Lys1168delinsThrAlaThrThrGlu
XM_017023173.1:c.3502_3503insCGGCGACCACCG	XP_016878662.1:p.Lys1168delinsThrAlaThrThrGlu
NM_001134407.3:c.3346_3347insCGGCGACCACCG MANE Select	NP_001127879.1:p.Lys1116delinsThrAlaThrThrGlu
NM_000833.5:c.3346_3347insCGGCGACCACCG	NP_000824.1:p.Lys1116delinsThrAlaThrThrGlu