Canonical Allele Identifier: CA10507127

Gene: GRIA3

Linked Data

• dbSNP Id: rs781125641
• ExAC: X:122561884 CTG / C
• gnomAD v2: X-122561884-CTG-C
• gnomAD v4: X-123428033-CTG-C
• MyVariant Identifiers: chrX:g.122561885_122561886del (hg19) ; chrX:g.123428034_123428035del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.123428036_123428037del , CM000685.2:g.123428036_123428037del	GRCh38
NC_000023.10:g.122561887_122561888del , CM000685.1:g.122561887_122561888del	GRCh37
NC_000023.9:g.122389568_122389569del	NCBI36
NG_009377.2:g.248794_248795del

Transcript Alleles

HGVS	Amino-acid change
ENST00000620443.2:c.1973_1974del MANE Select	ENSP00000478489.1:p.Val658GlyfsTer11
ENST00000622768.5:c.1973_1974del MANE Plus Clinical	ENSP00000481554.1:p.Val658GlyfsTer11
ENST00000541091.5:c.1973_1974del	ENSP00000446440.2:p.Val658GlyfsTer11
ENST00000620443.1:c.1973_1974del	ENSP00000478489.1:p.Val658GlyfsTer11
ENST00000620581.4:c.1973_1974del	ENSP00000481875.1:p.Val658GlyfsTer11
ENST00000622768.4:c.1973_1974del	ENSP00000481554.1:p.Val658GlyfsTer11
NM_000828.4:c.1973_1974del	NP_000819.3:p.Val658GlyfsTer11
NM_007325.4:c.1973_1974del	NP_015564.4:p.Val658GlyfsTer11
XR_938574.1:n.5217+9215_5217+9216del
NM_007325.5:c.1973_1974del MANE Select	NP_015564.5:p.Val658GlyfsTer11
NM_000828.5:c.1973_1974del MANE Plus Clinical	NP_000819.4:p.Val658GlyfsTer11