Canonical Allele Identifier: CA2697558228

Gene: GRIN1

Linked Data

• ClinVar Variation Id: 2746285
• ClinVar RCV Id: RCV003529672

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137167521_137167522delinsTT , CM000671.2:g.137167521_137167522delinsTT	GRCh38
NC_000009.11:g.140061973_140061974delinsTT , CM000671.1:g.140061973_140061974delinsTT	GRCh37
NC_000009.10:g.139181794_139181795delinsTT	NCBI36
NG_011507.1:g.33365_33366delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000371553.8:c.2764-253_2764-252delinsTT	ENSP00000360608.3:n.2764-253_2764-252deli...
ENST00000371560.5:c.2653-253_2653-252delinsTT	ENSP00000360615.3:n.2653-253_2653-252deli...
ENST00000371561.8:c.2811_2812delinsTT MANE Select	ENSP00000360616.3:p.Glu937_Ser938delinsAs...
ENST00000371546.8:c.2874_2875delinsTT	ENSP00000360601.4:p.Glu958_Ser959delinsAs...
ENST00000371550.8:c.2700_2701delinsTT	ENSP00000360605.4:p.Glu900_Ser901delinsAs...
ENST00000371553.7:c.2764-253_2764-252delinsTT	ENSP00000360608.3:n.2764-253_2764-252deli...
ENST00000371555.8:c.2763_2764delinsTT	ENSP00000360610.4:p.Glu921_Ser922delinsAs...
ENST00000371559.8:c.2590-253_2590-252delinsTT	ENSP00000360614.4:n.2590-253_2590-252deli...
ENST00000371560.4:c.2653-253_2653-252delinsTT	ENSP00000360615.3:n.2653-253_2653-252deli...
ENST00000371561.7:c.2811_2812delinsTT	ENSP00000360616.3:p.Glu937_Ser938delinsAs...
ENST00000473811.1:n.291_292delinsTT
NM_000832.6:c.2590-253_2590-252delinsTT	NP_000823.4:n.2590-253_2590-252delinsTT
NM_001185090.1:c.2764-253_2764-252delinsTT	NP_001172019.1:n.2764-253_2764-252delinsT...
NM_001185091.1:c.2653-253_2653-252delinsTT	NP_001172020.1:n.2653-253_2653-252delinsT...
NM_007327.3:c.2811_2812delinsTT	NP_015566.1:p.Glu937_Ser938delinsAspCys
NM_021569.3:c.2700_2701delinsTT	NP_067544.1:p.Glu900_Ser901delinsAspCys
XM_005266071.2:c.2701-253_2701-252delinsTT	XP_005266128.1:n.2701-253_2701-252delinsT...
XM_005266072.2:c.2763_2764delinsTT	XP_005266129.1:p.Glu921_Ser922delinsAspCy...
XM_005266073.3:c.2874_2875delinsTT	XP_005266130.1:p.Glu958_Ser959delinsAspCy...
XM_005266071.3:c.2701-253_2701-252delinsTT	XP_005266128.1:n.2701-253_2701-252delinsT...
XM_005266072.3:c.2763_2764delinsTT	XP_005266129.1:p.Glu921_Ser922delinsAspCy...
XM_005266073.4:c.2874_2875delinsTT	XP_005266130.1:p.Glu958_Ser959delinsAspCy...
NM_007327.4:c.2811_2812delinsTT MANE Select	NP_015566.1:p.Glu937_Ser938delinsAspCys
NM_000832.7:c.2590-253_2590-252delinsTT	NP_000823.4:n.2590-253_2590-252delinsTT
NM_001185090.2:c.2764-253_2764-252delinsTT	NP_001172019.1:n.2764-253_2764-252delinsT...
NM_001185091.2:c.2653-253_2653-252delinsTT	NP_001172020.1:n.2653-253_2653-252delinsT...
NM_021569.4:c.2700_2701delinsTT	NP_067544.1:p.Glu900_Ser901delinsAspCys