Canonical Allele Identifier: CA2692777478

Gene: GRIN1

Linked Data

• gnomAD v4: 9-137158701-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137158703del , CM000671.2:g.137158703del	GRCh38
NC_000009.11:g.140053155del , CM000671.1:g.140053155del	GRCh37
NC_000009.10:g.139172976del	NCBI36
NG_011507.1:g.24547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371553.8:c.1259del	ENSP00000360608.3:p.Lys420ArgfsTer3
ENST00000371560.5:c.1259del	ENSP00000360615.3:p.Lys420ArgfsTer3
ENST00000371561.8:c.1196del MANE Select	ENSP00000360616.3:p.Lys399ArgfsTer3
ENST00000675295.1:n.626del
ENST00000676396.1:n.2706del
ENST00000350902.9:c.*171del	ENSP00000316915.9:n.*171del
ENST00000371546.8:c.1259del	ENSP00000360601.4:p.Lys420ArgfsTer3
ENST00000371550.8:c.1196del	ENSP00000360605.4:p.Lys399ArgfsTer3
ENST00000371553.7:c.1259del	ENSP00000360608.3:p.Lys420ArgfsTer3
ENST00000371555.8:c.1259del	ENSP00000360610.4:p.Lys420ArgfsTer3
ENST00000371559.8:c.1196del	ENSP00000360614.4:p.Lys399ArgfsTer3
ENST00000371560.4:c.1259del	ENSP00000360615.3:p.Lys420ArgfsTer3
ENST00000371561.7:c.1196del	ENSP00000360616.3:p.Lys399ArgfsTer3
ENST00000471122.5:n.1273del
ENST00000485413.1:n.387del
NM_000832.6:c.1196del	NP_000823.4:p.Lys399ArgfsTer3
NM_001185090.1:c.1259del	NP_001172019.1:p.Lys420ArgfsTer3
NM_001185091.1:c.1259del	NP_001172020.1:p.Lys420ArgfsTer3
NM_007327.3:c.1196del	NP_015566.1:p.Lys399ArgfsTer3
NM_021569.3:c.1196del	NP_067544.1:p.Lys399ArgfsTer3
XM_005266071.2:c.1196del	XP_005266128.1:p.Lys399ArgfsTer3
XM_005266072.2:c.1259del	XP_005266129.1:p.Lys420ArgfsTer3
XM_005266073.3:c.1259del	XP_005266130.1:p.Lys420ArgfsTer3
XM_011518583.1:c.1259del	XP_011516885.1:p.Lys420ArgfsTer3
XM_005266071.3:c.1196del	XP_005266128.1:p.Lys399ArgfsTer3
XM_005266072.3:c.1259del	XP_005266129.1:p.Lys420ArgfsTer3
XM_005266073.4:c.1259del	XP_005266130.1:p.Lys420ArgfsTer3
XM_011518583.2:c.1259del	XP_011516885.1:p.Lys420ArgfsTer3
NM_007327.4:c.1196del MANE Select	NP_015566.1:p.Lys399ArgfsTer3
NM_000832.7:c.1196del	NP_000823.4:p.Lys399ArgfsTer3
NM_001185090.2:c.1259del	NP_001172019.1:p.Lys420ArgfsTer3
NM_001185091.2:c.1259del	NP_001172020.1:p.Lys420ArgfsTer3
NM_021569.4:c.1196del	NP_067544.1:p.Lys399ArgfsTer3