Canonical Allele Identifier: CA591215264

Gene: GRIN1

Linked Data

• ClinVar Variation Id: 2147758
• ClinVar RCV Id: RCV003061059
• dbSNP Id: rs1161768105
• gnomAD v2: 9-140036473-CA-C
• gnomAD v4: 9-137142021-CA-C
• MyVariant Identifiers: chr9:g.140036474del (hg19) ; chr9:g.137142022del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137142022del , CM000671.2:g.137142022del	GRCh38
NC_000009.11:g.140036474del , CM000671.1:g.140036474del	GRCh37
NC_000009.10:g.139156295del	NCBI36
NG_011507.1:g.7866del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371553.8:c.268del	ENSP00000360608.3:p.Ile90SerfsTer2
ENST00000371560.5:c.268del	ENSP00000360615.3:p.Ile90SerfsTer2
ENST00000371561.8:c.268del MANE Select	ENSP00000360616.3:p.Ile90SerfsTer2
ENST00000350902.9:c.268del	ENSP00000316915.9:p.Ile90SerfsTer2
ENST00000371546.8:c.268del	ENSP00000360601.4:p.Ile90SerfsTer2
ENST00000371550.8:c.268del	ENSP00000360605.4:p.Ile90SerfsTer2
ENST00000371553.7:c.268del	ENSP00000360608.3:p.Ile90SerfsTer2
ENST00000371555.8:c.268del	ENSP00000360610.4:p.Ile90SerfsTer2
ENST00000371559.8:c.268del	ENSP00000360614.4:p.Ile90SerfsTer2
ENST00000371560.4:c.268del	ENSP00000360615.3:p.Ile90SerfsTer2
ENST00000371561.7:c.268del	ENSP00000360616.3:p.Ile90SerfsTer2
ENST00000471122.5:n.345del
NM_000832.6:c.268del	NP_000823.4:p.Ile90SerfsTer2
NM_001185090.1:c.268del	NP_001172019.1:p.Ile90SerfsTer2
NM_001185091.1:c.268del	NP_001172020.1:p.Ile90SerfsTer2
NM_007327.3:c.268del	NP_015566.1:p.Ile90SerfsTer2
NM_021569.3:c.268del	NP_067544.1:p.Ile90SerfsTer2
XM_005266071.2:c.268del	XP_005266128.1:p.Ile90SerfsTer2
XM_005266072.2:c.268del	XP_005266129.1:p.Ile90SerfsTer2
XM_005266073.3:c.268del	XP_005266130.1:p.Ile90SerfsTer2
XM_011518583.1:c.268del	XP_011516885.1:p.Ile90SerfsTer2
XM_005266071.3:c.268del	XP_005266128.1:p.Ile90SerfsTer2
XM_005266072.3:c.268del	XP_005266129.1:p.Ile90SerfsTer2
XM_005266073.4:c.268del	XP_005266130.1:p.Ile90SerfsTer2
XM_011518583.2:c.268del	XP_011516885.1:p.Ile90SerfsTer2
NM_007327.4:c.268del MANE Select	NP_015566.1:p.Ile90SerfsTer2
NM_000832.7:c.268del	NP_000823.4:p.Ile90SerfsTer2
NM_001185090.2:c.268del	NP_001172019.1:p.Ile90SerfsTer2
NM_001185091.2:c.268del	NP_001172020.1:p.Ile90SerfsTer2
NM_021569.4:c.268del	NP_067544.1:p.Ile90SerfsTer2