Canonical Allele Identifier: CA808240274

Gene: GRM6

Linked Data

• ClinVar Variation Id: 1000539
• ClinVar RCV Id: RCV001296684
• dbSNP Id: rs1340892217
• MyVariant Identifiers: chr5:g.178421572_178421573insCGTCGC (hg19) ; chr5:g.178994571_178994572insCGTCGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.178994580_178994585dup , CM000667.2:g.178994580_178994585dup	GRCh38
NC_000005.9:g.178421581_178421586dup , CM000667.1:g.178421581_178421586dup	GRCh37
NC_000005.8:g.178354187_178354192dup	NCBI36
NG_008105.1:g.5547_5552dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517717.3:c.368_373dup MANE Select	ENSP00000430767.1:p.Asp124_Glu125insGlyAsp
ENST00000650031.1:c.368_373dup	ENSP00000497110.1:p.Asp124_Glu125insGlyAsp
ENST00000231188.9:c.368_373dup	ENSP00000231188.5:p.Asp124_Glu125insGlyAsp
ENST00000517717.1:c.368_373dup	ENSP00000430767.1:p.Asp124_Glu125insGlyAsp
NM_000843.3:c.368_373dup	NP_000834.2:p.Asp124_Glu125insGlyAsp
NM_000843.4:c.368_373dup MANE Select	NP_000834.2:p.Asp124_Glu125insGlyAsp