Canonical Allele Identifier: CA2739265239
Gene: GRIN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2813826
ClinVar RCV Id: RCV003643711

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137163680_137163682del , CM000671.2:g.137163680_137163682del GRCh38
NC_000009.11:g.140058132_140058134del , CM000671.1:g.140058132_140058134del GRCh37
NC_000009.10:g.139177953_139177955del NCBI36
NG_011507.1:g.29524_29526del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371553.8:c.2506+12_2506+14del ENSP00000360608.3:n.2506+12_2506+14del
ENST00000371560.5:c.2506+12_2506+14del ENSP00000360615.3:n.2506+12_2506+14del
ENST00000371561.8:c.2443+12_2443+14del MANE Select ENSP00000360616.3:n.2443+12_2443+14del
ENST00000675295.1:n.1873+12_1873+14del
ENST00000350902.9:c.*1418+12_*1418+14del ENSP00000316915.9:n.*1418+12_*1418+14del
ENST00000371546.8:c.2506+12_2506+14del ENSP00000360601.4:n.2506+12_2506+14del
ENST00000371550.8:c.2443+12_2443+14del ENSP00000360605.4:n.2443+12_2443+14del
ENST00000371553.7:c.2506+12_2506+14del ENSP00000360608.3:n.2506+12_2506+14del
ENST00000371555.8:c.2506+12_2506+14del ENSP00000360610.4:n.2506+12_2506+14del
ENST00000371559.8:c.2443+12_2443+14del ENSP00000360614.4:n.2443+12_2443+14del
ENST00000371560.4:c.2506+12_2506+14del ENSP00000360615.3:n.2506+12_2506+14del
ENST00000371561.7:c.2443+12_2443+14del ENSP00000360616.3:n.2443+12_2443+14del
ENST00000460273.1:n.464+12_464+14del
ENST00000471122.5:n.2520+12_2520+14del
NM_000832.6:c.2443+12_2443+14del NP_000823.4:n.2443+12_2443+14del
NM_001185090.1:c.2506+12_2506+14del NP_001172019.1:n.2506+12_2506+14del
NM_001185091.1:c.2506+12_2506+14del NP_001172020.1:n.2506+12_2506+14del
NM_007327.3:c.2443+12_2443+14del NP_015566.1:n.2443+12_2443+14del
NM_021569.3:c.2443+12_2443+14del NP_067544.1:n.2443+12_2443+14del
XM_005266071.2:c.2443+12_2443+14del XP_005266128.1:n.2443+12_2443+14del
XM_005266072.2:c.2506+12_2506+14del XP_005266129.1:n.2506+12_2506+14del
XM_005266073.3:c.2506+12_2506+14del XP_005266130.1:n.2506+12_2506+14del
XM_011518583.1:c.2506+12_2506+14del XP_011516885.1:n.2506+12_2506+14del
XM_005266071.3:c.2443+12_2443+14del XP_005266128.1:n.2443+12_2443+14del
XM_005266072.3:c.2506+12_2506+14del XP_005266129.1:n.2506+12_2506+14del
XM_005266073.4:c.2506+12_2506+14del XP_005266130.1:n.2506+12_2506+14del
XM_011518583.2:c.2506+12_2506+14del XP_011516885.1:n.2506+12_2506+14del
NM_007327.4:c.2443+12_2443+14del MANE Select NP_015566.1:n.2443+12_2443+14del
NM_000832.7:c.2443+12_2443+14del NP_000823.4:n.2443+12_2443+14del
NM_001185090.2:c.2506+12_2506+14del NP_001172019.1:n.2506+12_2506+14del
NM_001185091.2:c.2506+12_2506+14del NP_001172020.1:n.2506+12_2506+14del
NM_021569.4:c.2443+12_2443+14del NP_067544.1:n.2443+12_2443+14del