Canonical Allele Identifier: CA2840054431

Gene: GRIN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10180353_10180365del , CM000678.2:g.10180353_10180365del	GRCh38
NC_000016.9:g.10274210_10274222del , CM000678.1:g.10274210_10274222del	GRCh37
NC_000016.8:g.10181711_10181723del	NCBI36
NG_011812.1:g.7391_7403del
NG_011812.2:g.7391_7403del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.48_60del MANE Select	ENSP00000332549.3:p.Val17ArgfsTer14
ENST00000675189.1:n.532_544del
ENST00000675398.1:c.48_60del	ENSP00000502752.1:p.Val17ArgfsTer14
ENST00000676032.1:n.481_493del
ENST00000330684.3:c.48_60del	ENSP00000332549.3:p.Val17ArgfsTer14
ENST00000396573.6:c.48_60del	ENSP00000379818.2:p.Val17ArgfsTer14
ENST00000562109.5:c.48_60del	ENSP00000454998.1:p.Val17ArgfsTer14
ENST00000566665.1:n.449_461del
NM_000833.4:c.48_60del	NP_000824.1:p.Val17ArgfsTer14
NM_001134407.2:c.48_60del	NP_001127879.1:p.Val17ArgfsTer14
NM_001134408.2:c.48_60del	NP_001127880.1:p.Val17ArgfsTer14
XM_011522461.1:c.48_60del	XP_011520763.1:p.Val17ArgfsTer14
XM_011522461.3:c.48_60del	XP_011520763.1:p.Val17ArgfsTer14
XM_017023172.1:c.204_216del	XP_016878661.1:p.Val69ArgfsTer14
XM_017023173.1:c.204_216del	XP_016878662.1:p.Val69ArgfsTer14
NM_001134407.3:c.48_60del MANE Select	NP_001127879.1:p.Val17ArgfsTer14
NM_000833.5:c.48_60del	NP_000824.1:p.Val17ArgfsTer14