Canonical Allele Identifier: CA1130083237

Gene: GRIN1

Linked Data

• gnomAD v3: 9-137157071-GCTCTTGGGGAGGTGGGCGGGGTCACTCCAGAGATGGGCGGGGCCGCTCTTGGGGAGGTGGGCGGGGCCACTCTCCAGAGCTGGGCGGAGCAGCTCTCAGGACTAGGCGGGGCCGCTCTTAGGGAGCTGGGGGAGCGCTCCTCAAGAGATGGGTGGGGGCA-G
• gnomAD v4: 9-137157071-GCTCTTGGGGAGGTGGGCGGGGTCACTCCAGAGATGGGCGGGGCCGCTCTTGGGGAGGTGGGCGGGGCCACTCTCCAGAGCTGGGCGGAGCAGCTCTCAGGACTAGGCGGGGCCGCTCTTAGGGAGCTGGGGGAGCGCTCCTCAAGAGATGGGTGGGGGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137157076_137157235del , CM000671.2:g.137157076_137157235del	GRCh38
NC_000009.11:g.140051528_140051687del , CM000671.1:g.140051528_140051687del	GRCh37
NC_000009.10:g.139171349_139171508del	NCBI36
NG_011507.1:g.22920_23079del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371553.8:c.1031+39_1031+198del	ENSP00000360608.3:n.1031+39_1031+198del
ENST00000371560.5:c.1031+39_1031+198del	ENSP00000360615.3:n.1031+39_1031+198del
ENST00000371561.8:c.968+39_968+198del MANE Select	ENSP00000360616.3:n.968+39_968+198del
ENST00000675295.1:n.398+39_398+198del
ENST00000676396.1:n.2478+39_2478+198del
ENST00000350902.9:c.1014+39_1014+198del	ENSP00000316915.9:n.1014+39_1014+198del
ENST00000371546.8:c.1031+39_1031+198del	ENSP00000360601.4:n.1031+39_1031+198del
ENST00000371550.8:c.968+39_968+198del	ENSP00000360605.4:n.968+39_968+198del
ENST00000371553.7:c.1031+39_1031+198del	ENSP00000360608.3:n.1031+39_1031+198del
ENST00000371555.8:c.1031+39_1031+198del	ENSP00000360610.4:n.1031+39_1031+198del
ENST00000371559.8:c.968+39_968+198del	ENSP00000360614.4:n.968+39_968+198del
ENST00000371560.4:c.1031+39_1031+198del	ENSP00000360615.3:n.1031+39_1031+198del
ENST00000371561.7:c.968+39_968+198del	ENSP00000360616.3:n.968+39_968+198del
ENST00000471122.5:n.1045+39_1045+198del
ENST00000485413.1:n.62+39_62+198del
NM_000832.6:c.968+39_968+198del	NP_000823.4:n.968+39_968+198del
NM_001185090.1:c.1031+39_1031+198del	NP_001172019.1:n.1031+39_1031+198del
NM_001185091.1:c.1031+39_1031+198del	NP_001172020.1:n.1031+39_1031+198del
NM_007327.3:c.968+39_968+198del	NP_015566.1:n.968+39_968+198del
NM_021569.3:c.968+39_968+198del	NP_067544.1:n.968+39_968+198del
XM_005266071.2:c.968+39_968+198del	XP_005266128.1:n.968+39_968+198del
XM_005266072.2:c.1031+39_1031+198del	XP_005266129.1:n.1031+39_1031+198del
XM_005266073.3:c.1031+39_1031+198del	XP_005266130.1:n.1031+39_1031+198del
XM_011518583.1:c.1031+39_1031+198del	XP_011516885.1:n.1031+39_1031+198del
XM_005266071.3:c.968+39_968+198del	XP_005266128.1:n.968+39_968+198del
XM_005266072.3:c.1031+39_1031+198del	XP_005266129.1:n.1031+39_1031+198del
XM_005266073.4:c.1031+39_1031+198del	XP_005266130.1:n.1031+39_1031+198del
XM_011518583.2:c.1031+39_1031+198del	XP_011516885.1:n.1031+39_1031+198del
NM_007327.4:c.968+39_968+198del MANE Select	NP_015566.1:n.968+39_968+198del
NM_000832.7:c.968+39_968+198del	NP_000823.4:n.968+39_968+198del
NM_001185090.2:c.1031+39_1031+198del	NP_001172019.1:n.1031+39_1031+198del
NM_001185091.2:c.1031+39_1031+198del	NP_001172020.1:n.1031+39_1031+198del
NM_021569.4:c.968+39_968+198del	NP_067544.1:n.968+39_968+198del