Canonical Allele Identifier: CA591372591

Gene: GRIN1

Linked Data

• ClinVar Variation Id: 2416275
• ClinVar RCV Id: RCV003107024
• dbSNP Id: rs1337387219
• gnomAD v2: 9-140051450-G-GCAACAC
• MyVariant Identifiers: chr9:g.140051450_140051451insCAACAC (hg19) ; chr9:g.137156998_137156999insCAACAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137157004_137157009dup , CM000671.2:g.137157004_137157009dup	GRCh38
NC_000009.11:g.140051456_140051461dup , CM000671.1:g.140051456_140051461dup	GRCh37
NC_000009.10:g.139171277_139171282dup	NCBI36
NG_011507.1:g.22848_22853dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371553.8:c.998_1003dup	ENSP00000360608.3:p.Asn334_Ile335insThrAsn
ENST00000371560.5:c.998_1003dup	ENSP00000360615.3:p.Asn334_Ile335insThrAsn
ENST00000371561.8:c.935_940dup MANE Select	ENSP00000360616.3:p.Asn313_Ile314insThrAsn
ENST00000675295.1:n.365_370dup
ENST00000676396.1:n.2445_2450dup
ENST00000350902.9:c.981_986dup	ENSP00000316915.9:p.His329_Leu330insGlnHis
ENST00000371546.8:c.998_1003dup	ENSP00000360601.4:p.Asn334_Ile335insThrAsn
ENST00000371550.8:c.935_940dup	ENSP00000360605.4:p.Asn313_Ile314insThrAsn
ENST00000371553.7:c.998_1003dup	ENSP00000360608.3:p.Asn334_Ile335insThrAsn
ENST00000371555.8:c.998_1003dup	ENSP00000360610.4:p.Asn334_Ile335insThrAsn
ENST00000371559.8:c.935_940dup	ENSP00000360614.4:p.Asn313_Ile314insThrAsn
ENST00000371560.4:c.998_1003dup	ENSP00000360615.3:p.Asn334_Ile335insThrAsn
ENST00000371561.7:c.935_940dup	ENSP00000360616.3:p.Asn313_Ile314insThrAsn
ENST00000471122.5:n.1012_1017dup
ENST00000485413.1:n.29_34dup
NM_000832.6:c.935_940dup	NP_000823.4:p.Asn313_Ile314insThrAsn
NM_001185090.1:c.998_1003dup	NP_001172019.1:p.Asn334_Ile335insThrAsn
NM_001185091.1:c.998_1003dup	NP_001172020.1:p.Asn334_Ile335insThrAsn
NM_007327.3:c.935_940dup	NP_015566.1:p.Asn313_Ile314insThrAsn
NM_021569.3:c.935_940dup	NP_067544.1:p.Asn313_Ile314insThrAsn
XM_005266071.2:c.935_940dup	XP_005266128.1:p.Asn313_Ile314insThrAsn
XM_005266072.2:c.998_1003dup	XP_005266129.1:p.Asn334_Ile335insThrAsn
XM_005266073.3:c.998_1003dup	XP_005266130.1:p.Asn334_Ile335insThrAsn
XM_011518583.1:c.998_1003dup	XP_011516885.1:p.Asn334_Ile335insThrAsn
XM_005266071.3:c.935_940dup	XP_005266128.1:p.Asn313_Ile314insThrAsn
XM_005266072.3:c.998_1003dup	XP_005266129.1:p.Asn334_Ile335insThrAsn
XM_005266073.4:c.998_1003dup	XP_005266130.1:p.Asn334_Ile335insThrAsn
XM_011518583.2:c.998_1003dup	XP_011516885.1:p.Asn334_Ile335insThrAsn
NM_007327.4:c.935_940dup MANE Select	NP_015566.1:p.Asn313_Ile314insThrAsn
NM_000832.7:c.935_940dup	NP_000823.4:p.Asn313_Ile314insThrAsn
NM_001185090.2:c.998_1003dup	NP_001172019.1:p.Asn334_Ile335insThrAsn
NM_001185091.2:c.998_1003dup	NP_001172020.1:p.Asn334_Ile335insThrAsn
NM_021569.4:c.935_940dup	NP_067544.1:p.Asn313_Ile314insThrAsn