Canonical Allele Identifier: CA591372592

Gene: GRIN1

Linked Data

• ClinVar Variation Id: 2077291
• ClinVar RCV Id: RCV002985449
• dbSNP Id: rs1471489258
• gnomAD v2: 9-140051486-AGAGGTGGGCGGGGCCTCCCCGGAGCTGGGCGGGGCTGCTCTTGGG-A
• gnomAD v4: 9-137157034-AGAGGTGGGCGGGGCCTCCCCGGAGCTGGGCGGGGCTGCTCTTGGG-A
• MyVariant Identifiers: chr9:g.140051487_140051531del (hg19) ; chr9:g.137157035_137157079del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137157048_137157092del , CM000671.2:g.137157048_137157092del	GRCh38
NC_000009.11:g.140051500_140051544del , CM000671.1:g.140051500_140051544del	GRCh37
NC_000009.10:g.139171321_139171365del	NCBI36
NG_011507.1:g.22892_22936del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371553.8:c.1031+11_1031+55del
ENST00000371560.5:c.1031+11_1031+55del
ENST00000371561.8:c.968+11_968+55del
ENST00000675295.1:n.398+11_398+55del
ENST00000676396.1:n.2478+11_2478+55del
ENST00000350902.9:c.1014+11_1014+55del
ENST00000371546.8:c.1031+11_1031+55del
ENST00000371550.8:c.968+11_968+55del
ENST00000371553.7:c.1031+11_1031+55del
ENST00000371555.8:c.1031+11_1031+55del
ENST00000371559.8:c.968+11_968+55del
ENST00000371560.4:c.1031+11_1031+55del
ENST00000371561.7:c.968+11_968+55del
ENST00000471122.5:n.1045+11_1045+55del
ENST00000485413.1:n.62+11_62+55del
NM_000832.6:c.968+11_968+55del
NM_001185090.1:c.1031+11_1031+55del
NM_001185091.1:c.1031+11_1031+55del
NM_007327.3:c.968+11_968+55del
NM_021569.3:c.968+11_968+55del
XM_005266071.2:c.968+11_968+55del
XM_005266072.2:c.1031+11_1031+55del
XM_005266073.3:c.1031+11_1031+55del
XM_011518583.1:c.1031+11_1031+55del
XM_005266071.3:c.968+11_968+55del
XM_005266072.3:c.1031+11_1031+55del
XM_005266073.4:c.1031+11_1031+55del
XM_011518583.2:c.1031+11_1031+55del
NM_007327.4:c.968+11_968+55del
NM_000832.7:c.968+11_968+55del
NM_001185090.2:c.1031+11_1031+55del
NM_001185091.2:c.1031+11_1031+55del
NM_021569.4:c.968+11_968+55del