Canonical Allele Identifier: CA658797379
Gene: GRIN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 503924
ClinVar RCV Id: RCV000598843
dbSNP Id: rs1554768765

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137156948_137156949insCTCGAT , CM000671.2:g.137156948_137156949insCTCGAT GRCh38
NC_000009.11:g.140051400_140051401insCTCGAT , CM000671.1:g.140051400_140051401insCTCGAT GRCh37
NC_000009.10:g.139171221_139171222insCTCGAT NCBI36
NG_011507.1:g.22792_22793insCTCGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000371553.8:c.942_943insCTCGAT ENSP00000360608.3:p.His314_Glu315insLeuAsp
ENST00000371560.5:c.942_943insCTCGAT ENSP00000360615.3:p.His314_Glu315insLeuAsp
ENST00000371561.8:c.879_880insCTCGAT MANE Select ENSP00000360616.3:p.His293_Glu294insLeuAsp
ENST00000675295.1:n.309_310insCTCGAT
ENST00000676396.1:n.2389_2390insCTCGAT
ENST00000350902.9:c.925_926insCTCGAT ENSP00000316915.9:p.Arg309ProfsTer3
ENST00000371546.8:c.942_943insCTCGAT ENSP00000360601.4:p.His314_Glu315insLeuAsp
ENST00000371550.8:c.879_880insCTCGAT ENSP00000360605.4:p.His293_Glu294insLeuAsp
ENST00000371553.7:c.942_943insCTCGAT ENSP00000360608.3:p.His314_Glu315insLeuAsp
ENST00000371555.8:c.942_943insCTCGAT ENSP00000360610.4:p.His314_Glu315insLeuAsp
ENST00000371559.8:c.879_880insCTCGAT ENSP00000360614.4:p.His293_Glu294insLeuAsp
ENST00000371560.4:c.942_943insCTCGAT ENSP00000360615.3:p.His314_Glu315insLeuAsp
ENST00000371561.7:c.879_880insCTCGAT ENSP00000360616.3:p.His293_Glu294insLeuAsp
ENST00000471122.5:n.956_957insCTCGAT
NM_000832.6:c.879_880insCTCGAT NP_000823.4:p.His293_Glu294insLeuAsp
NM_001185090.1:c.942_943insCTCGAT NP_001172019.1:p.His314_Glu315insLeuAsp
NM_001185091.1:c.942_943insCTCGAT NP_001172020.1:p.His314_Glu315insLeuAsp
NM_007327.3:c.879_880insCTCGAT NP_015566.1:p.His293_Glu294insLeuAsp
NM_021569.3:c.879_880insCTCGAT NP_067544.1:p.His293_Glu294insLeuAsp
XM_005266071.2:c.879_880insCTCGAT XP_005266128.1:p.His293_Glu294insLeuAsp
XM_005266072.2:c.942_943insCTCGAT XP_005266129.1:p.His314_Glu315insLeuAsp
XM_005266073.3:c.942_943insCTCGAT XP_005266130.1:p.His314_Glu315insLeuAsp
XM_011518583.1:c.942_943insCTCGAT XP_011516885.1:p.His314_Glu315insLeuAsp
XM_005266071.3:c.879_880insCTCGAT XP_005266128.1:p.His293_Glu294insLeuAsp
XM_005266072.3:c.942_943insCTCGAT XP_005266129.1:p.His314_Glu315insLeuAsp
XM_005266073.4:c.942_943insCTCGAT XP_005266130.1:p.His314_Glu315insLeuAsp
XM_011518583.2:c.942_943insCTCGAT XP_011516885.1:p.His314_Glu315insLeuAsp
NM_007327.4:c.879_880insCTCGAT MANE Select NP_015566.1:p.His293_Glu294insLeuAsp
NM_000832.7:c.879_880insCTCGAT NP_000823.4:p.His293_Glu294insLeuAsp
NM_001185090.2:c.942_943insCTCGAT NP_001172019.1:p.His314_Glu315insLeuAsp
NM_001185091.2:c.942_943insCTCGAT NP_001172020.1:p.His314_Glu315insLeuAsp
NM_021569.4:c.879_880insCTCGAT NP_067544.1:p.His293_Glu294insLeuAsp