Canonical Allele Identifier: CA2579529049
Gene: GRIN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137167454_137167455del , CM000671.2:g.137167454_137167455del GRCh38
NC_000009.11:g.140061906_140061907del , CM000671.1:g.140061906_140061907del GRCh37
NC_000009.10:g.139181727_139181728del NCBI36
NG_011507.1:g.33298_33299del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371553.8:c.2764-320_2764-319del ENSP00000360608.3:n.2764-320_2764-319del
ENST00000371560.5:c.2653-320_2653-319del ENSP00000360615.3:n.2653-320_2653-319del
ENST00000371561.8:c.2744_2745del MANE Select ENSP00000360616.3:p.Thr915SerfsTer8
ENST00000371546.8:c.2807_2808del ENSP00000360601.4:p.Thr936SerfsTer8
ENST00000371550.8:c.2633_2634del ENSP00000360605.4:p.Thr878SerfsTer8
ENST00000371553.7:c.2764-320_2764-319del ENSP00000360608.3:n.2764-320_2764-319del
ENST00000371555.8:c.2696_2697del ENSP00000360610.4:p.Thr899SerfsTer8
ENST00000371559.8:c.2590-320_2590-319del ENSP00000360614.4:n.2590-320_2590-319del
ENST00000371560.4:c.2653-320_2653-319del ENSP00000360615.3:n.2653-320_2653-319del
ENST00000371561.7:c.2744_2745del ENSP00000360616.3:p.Thr915SerfsTer8
ENST00000473811.1:n.224_225del
NM_000832.6:c.2590-320_2590-319del NP_000823.4:n.2590-320_2590-319del
NM_001185090.1:c.2764-320_2764-319del NP_001172019.1:n.2764-320_2764-319del
NM_001185091.1:c.2653-320_2653-319del NP_001172020.1:n.2653-320_2653-319del
NM_007327.3:c.2744_2745del NP_015566.1:p.Thr915SerfsTer8
NM_021569.3:c.2633_2634del NP_067544.1:p.Thr878SerfsTer8
XM_005266071.2:c.2701-320_2701-319del XP_005266128.1:n.2701-320_2701-319del
XM_005266072.2:c.2696_2697del XP_005266129.1:p.Thr899SerfsTer8
XM_005266073.3:c.2807_2808del XP_005266130.1:p.Thr936SerfsTer8
XM_005266071.3:c.2701-320_2701-319del XP_005266128.1:n.2701-320_2701-319del
XM_005266072.3:c.2696_2697del XP_005266129.1:p.Thr899SerfsTer8
XM_005266073.4:c.2807_2808del XP_005266130.1:p.Thr936SerfsTer8
NM_007327.4:c.2744_2745del MANE Select NP_015566.1:p.Thr915SerfsTer8
NM_000832.7:c.2590-320_2590-319del NP_000823.4:n.2590-320_2590-319del
NM_001185090.2:c.2764-320_2764-319del NP_001172019.1:n.2764-320_2764-319del
NM_001185091.2:c.2653-320_2653-319del NP_001172020.1:n.2653-320_2653-319del
NM_021569.4:c.2633_2634del NP_067544.1:p.Thr878SerfsTer8