Canonical Allele Identifier: CA2573139408
Gene: GRM6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1485234
ClinVar RCV Id: RCV002008509
dbSNP Id: rs2113347555

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.178994505_178994513dup , CM000667.2:g.178994505_178994513dup GRCh38
NC_000005.9:g.178421506_178421514dup , CM000667.1:g.178421506_178421514dup GRCh37
NC_000005.8:g.178354112_178354120dup NCBI36
NG_008105.1:g.5619_5627dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000517717.3:c.440_448dup MANE Select ENSP00000430767.1:p.Val149_Gly150insAlaValVal
ENST00000650031.1:c.440_448dup ENSP00000497110.1:p.Val149_Gly150insAlaValVal
ENST00000231188.9:c.440_448dup ENSP00000231188.5:p.Val149_Gly150insAlaValVal
ENST00000517717.1:c.440_448dup ENSP00000430767.1:p.Val149_Gly150insAlaValVal
NM_000843.3:c.440_448dup NP_000834.2:p.Val149_Gly150insAlaValVal
NM_000843.4:c.440_448dup MANE Select NP_000834.2:p.Val149_Gly150insAlaValVal