Canonical Allele Identifier: CA7896398

Gene: GRIN2A

Linked Data

• dbSNP Id: rs777041615
• ExAC: 16:9858433 CATTGAG / C
• gnomAD v2: 16-9858433-CATTGAG-C
• gnomAD v4: 16-9764576-CATTGAG-C
• MyVariant Identifiers: chr16:g.9858434_9858439del (hg19) ; chr16:g.9764577_9764582del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764578_9764583del , CM000678.2:g.9764578_9764583del	GRCh38
NC_000016.9:g.9858435_9858440del , CM000678.1:g.9858435_9858440del	GRCh37
NC_000016.8:g.9765936_9765941del	NCBI36
NG_011812.1:g.423173_423178del
NG_011812.2:g.423173_423178del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.2962_2967del MANE Select	ENSP00000332549.3:p.Leu988_Asn989del
ENST00000535259.6:c.2491_2496del	ENSP00000441572.3:p.Leu831_Asn832del
ENST00000636273.2:n.2555_2560del
ENST00000674742.1:c.2491_2496del	ENSP00000502200.1:p.Leu831_Asn832del
ENST00000675398.1:c.*332_*337del	ENSP00000502752.1:n.*332_*337del
ENST00000330684.3:c.2962_2967del	ENSP00000332549.3:p.Leu988_Asn989del
ENST00000396573.6:c.2962_2967del	ENSP00000379818.2:p.Leu988_Asn989del
ENST00000396575.6:c.2551_2556del	ENSP00000379820.3:p.Leu851_Asn852del
ENST00000461292.3:n.2601_2606del
ENST00000535259.5:c.2551_2556del	ENSP00000441572.2:p.Leu851_Asn852del
ENST00000562109.5:c.2962_2967del	ENSP00000454998.1:p.Leu988_Asn989del
NM_000833.4:c.2962_2967del	NP_000824.1:p.Leu988_Asn989del
NM_001134407.2:c.2962_2967del	NP_001127879.1:p.Leu988_Asn989del
NM_001134408.2:c.2962_2967del	NP_001127880.1:p.Leu988_Asn989del
XM_011522456.1:c.2803_2808del	XP_011520758.1:p.Leu935_Asn936del
XM_011522457.1:c.2704_2709del	XP_011520759.1:p.Leu902_Asn903del
XM_011522458.1:c.2491_2496del	XP_011520760.1:p.Leu831_Asn832del
XM_011522459.1:c.2491_2496del	XP_011520761.1:p.Leu831_Asn832del
XM_011522460.1:c.2491_2496del	XP_011520762.1:p.Leu831_Asn832del
XM_011522461.1:c.2962_2967del	XP_011520763.1:p.Leu988_Asn989del
XM_011522458.3:c.2491_2496del	XP_011520760.1:p.Leu831_Asn832del
XM_011522461.3:c.2962_2967del	XP_011520763.1:p.Leu988_Asn989del
XM_017023172.1:c.3118_3123del	XP_016878661.1:p.Leu1040_Asn1041del
XM_017023173.1:c.3118_3123del	XP_016878662.1:p.Leu1040_Asn1041del
NM_001134407.3:c.2962_2967del MANE Select	NP_001127879.1:p.Leu988_Asn989del
NM_000833.5:c.2962_2967del	NP_000824.1:p.Leu988_Asn989del