Canonical Allele Identifier: CA2631676210

Gene: GRIN2A

Linked Data

• gnomAD v4: 16-9764627-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764630_9764632del , CM000678.2:g.9764630_9764632del	GRCh38
NC_000016.9:g.9858487_9858489del , CM000678.1:g.9858487_9858489del	GRCh37
NC_000016.8:g.9765988_9765990del	NCBI36
NG_011812.1:g.423125_423127del
NG_011812.2:g.423125_423127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.2914_2916del MANE Select	ENSP00000332549.3:p.Lys972del
ENST00000535259.6:c.2443_2445del	ENSP00000441572.3:p.Lys815del
ENST00000636273.2:n.2507_2509del
ENST00000674742.1:c.2443_2445del	ENSP00000502200.1:p.Lys815del
ENST00000675398.1:c.*284_*286del	ENSP00000502752.1:n.*284_*286del
ENST00000330684.3:c.2914_2916del	ENSP00000332549.3:p.Lys972del
ENST00000396573.6:c.2914_2916del	ENSP00000379818.2:p.Lys972del
ENST00000396575.6:c.2503_2505del	ENSP00000379820.3:p.Lys835del
ENST00000461292.3:n.2553_2555del
ENST00000535259.5:c.2503_2505del	ENSP00000441572.2:p.Lys835del
ENST00000562109.5:c.2914_2916del	ENSP00000454998.1:p.Lys972del
NM_000833.4:c.2914_2916del	NP_000824.1:p.Lys972del
NM_001134407.2:c.2914_2916del	NP_001127879.1:p.Lys972del
NM_001134408.2:c.2914_2916del	NP_001127880.1:p.Lys972del
XM_011522456.1:c.2755_2757del	XP_011520758.1:p.Lys919del
XM_011522457.1:c.2656_2658del	XP_011520759.1:p.Lys886del
XM_011522458.1:c.2443_2445del	XP_011520760.1:p.Lys815del
XM_011522459.1:c.2443_2445del	XP_011520761.1:p.Lys815del
XM_011522460.1:c.2443_2445del	XP_011520762.1:p.Lys815del
XM_011522461.1:c.2914_2916del	XP_011520763.1:p.Lys972del
XM_011522458.3:c.2443_2445del	XP_011520760.1:p.Lys815del
XM_011522461.3:c.2914_2916del	XP_011520763.1:p.Lys972del
XM_017023172.1:c.3070_3072del	XP_016878661.1:p.Lys1024del
XM_017023173.1:c.3070_3072del	XP_016878662.1:p.Lys1024del
NM_001134407.3:c.2914_2916del MANE Select	NP_001127879.1:p.Lys972del
NM_000833.5:c.2914_2916del	NP_000824.1:p.Lys972del