Canonical Allele Identifier: CA1130083743

Gene: GRIN1

Linked Data

• gnomAD v3: 9-137161557-GGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCT-G
• gnomAD v4: 9-137161557-GGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137161563_137161732del , CM000671.2:g.137161563_137161732del	GRCh38
NC_000009.11:g.140056015_140056184del , CM000671.1:g.140056015_140056184del	GRCh37
NC_000009.10:g.139175836_139176005del	NCBI36
NG_011507.1:g.27407_27576del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371553.8:c.1530+147_1531-192del	ENSP00000360608.3:n.1530+147_1531-192del
ENST00000371560.5:c.1530+147_1531-192del	ENSP00000360615.3:n.1530+147_1531-192del
ENST00000371561.8:c.1467+147_1468-192del MANE Select	ENSP00000360616.3:n.1467+147_1468-192del
ENST00000675295.1:n.897+147_898-192del
ENST00000350902.9:c.*442+147_*443-192del	ENSP00000316915.9:n.*442+147_*443-192del
ENST00000371546.8:c.1530+147_1531-192del	ENSP00000360601.4:n.1530+147_1531-192del
ENST00000371550.8:c.1467+147_1468-192del	ENSP00000360605.4:n.1467+147_1468-192del
ENST00000371553.7:c.1530+147_1531-192del	ENSP00000360608.3:n.1530+147_1531-192del
ENST00000371555.8:c.1530+147_1531-192del	ENSP00000360610.4:n.1530+147_1531-192del
ENST00000371559.8:c.1467+147_1468-192del	ENSP00000360614.4:n.1467+147_1468-192del
ENST00000371560.4:c.1530+147_1531-192del	ENSP00000360615.3:n.1530+147_1531-192del
ENST00000371561.7:c.1467+147_1468-192del	ENSP00000360616.3:n.1467+147_1468-192del
ENST00000471122.5:n.1544+147_1545-192del
NM_000832.6:c.1467+147_1468-192del	NP_000823.4:n.1467+147_1468-192del
NM_001185090.1:c.1530+147_1531-192del	NP_001172019.1:n.1530+147_1531-192del
NM_001185091.1:c.1530+147_1531-192del	NP_001172020.1:n.1530+147_1531-192del
NM_007327.3:c.1467+147_1468-192del	NP_015566.1:n.1467+147_1468-192del
NM_021569.3:c.1467+147_1468-192del	NP_067544.1:n.1467+147_1468-192del
XM_005266071.2:c.1467+147_1468-192del	XP_005266128.1:n.1467+147_1468-192del
XM_005266072.2:c.1530+147_1531-192del	XP_005266129.1:n.1530+147_1531-192del
XM_005266073.3:c.1530+147_1531-192del	XP_005266130.1:n.1530+147_1531-192del
XM_011518583.1:c.1530+147_1531-192del	XP_011516885.1:n.1530+147_1531-192del
XM_005266071.3:c.1467+147_1468-192del	XP_005266128.1:n.1467+147_1468-192del
XM_005266072.3:c.1530+147_1531-192del	XP_005266129.1:n.1530+147_1531-192del
XM_005266073.4:c.1530+147_1531-192del	XP_005266130.1:n.1530+147_1531-192del
XM_011518583.2:c.1530+147_1531-192del	XP_011516885.1:n.1530+147_1531-192del
NM_007327.4:c.1467+147_1468-192del MANE Select	NP_015566.1:n.1467+147_1468-192del
NM_000832.7:c.1467+147_1468-192del	NP_000823.4:n.1467+147_1468-192del
NM_001185090.2:c.1530+147_1531-192del	NP_001172019.1:n.1530+147_1531-192del
NM_001185091.2:c.1530+147_1531-192del	NP_001172020.1:n.1530+147_1531-192del
NM_021569.4:c.1467+147_1468-192del	NP_067544.1:n.1467+147_1468-192del