Canonical Allele Identifier: CA3594486

Gene: GRM6

Linked Data

• ClinVar Variation Id: 437970
• ClinVar RCV Id: RCV000505097 ; RCV002524401
• dbSNP Id: rs781463257
• ExAC: 5:178419011 AC / A
• gnomAD v2: 5-178419011-AC-A
• gnomAD v3: 5-178992010-AC-A
• gnomAD v4: 5-178992010-AC-A
• MyVariant Identifiers: chr5:g.178419012del (hg19) ; chr5:g.178992011del (hg38)
• PubMed: PMID:22008250 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.178992013del , CM000667.2:g.178992013del	GRCh38
NC_000005.9:g.178419014del , CM000667.1:g.178419014del	GRCh37
NC_000005.8:g.178351620del	NCBI36
NG_008105.1:g.8113del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517717.3:c.577del MANE Select	ENSP00000430767.1:p.Val193TrpfsTer16
ENST00000650031.1:c.577del	ENSP00000497110.1:p.Val193TrpfsTer16
ENST00000231188.9:c.577del	ENSP00000231188.5:p.Val193TrpfsTer16
ENST00000517717.1:c.577del	ENSP00000430767.1:p.Val193TrpfsTer16
NM_000843.3:c.577del	NP_000834.2:p.Val193TrpfsTer16
NM_000843.4:c.577del MANE Select	NP_000834.2:p.Val193TrpfsTer16