Canonical Allele Identifier: CA200213
Gene: ADGRG6 HGNC NCBI

Linked Data

ClinVar Variation Id: 192348
ClinVar RCV Id: RCV000172978 RCV000186599
dbSNP Id: rs793888524
MyVariant Identifiers: chr6:g.142726841dupG (hg19) chr6:g.142405704dupG (hg38)
PubMed: PMID:26004201
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.142405704dup , CM000668.2:g.142405704dup GRCh38
NC_000006.11:g.142726841dup , CM000668.1:g.142726841dup GRCh37
NC_000006.10:g.142768534dup NCBI36
NG_011839.1:g.108786dup

Transcript Alleles

HGVS Amino-acid change
ENST00000296932.13:c.2060dup ENSP00000296932.8:p.Gln688ThrfsTer16
ENST00000367609.8:c.2144dup MANE Select ENSP00000356581.3:p.Gln716ThrfsTer16
ENST00000230173.10:c.2144dup ENSP00000230173.6:p.Gln716ThrfsTer16
ENST00000296932.12:c.2060dup ENSP00000296932.8:p.Gln688ThrfsTer16
ENST00000367608.6:c.2060dup ENSP00000356580.2:p.Gln688ThrfsTer16
ENST00000367609.7:c.2144dup ENSP00000356581.3:p.Gln716ThrfsTer16
ENST00000538281.1:n.396dup
ENST00000540208.1:c.317dup
NM_001032394.2:c.2060dup NP_001027566.1:p.Gln688ThrfsTer16
NM_001032395.2:c.2060dup NP_001027567.1:p.Gln688ThrfsTer16
NM_020455.5:c.2144dup NP_065188.4:p.Gln716ThrfsTer16
NM_198569.2:c.2144dup NP_940971.1:p.Gln716ThrfsTer16
XM_005267061.2:c.2147dup XP_005267118.1:p.Gln717ThrfsTer16
XM_006715516.2:c.2147dup XP_006715579.1:p.Gln717ThrfsTer16
XM_006715517.2:c.2141dup XP_006715580.1:p.Gln715ThrfsTer16
XM_006715518.2:c.2063dup XP_006715581.1:p.Gln689ThrfsTer16
XM_011535964.1:c.2144dup XP_011534266.1:p.Gln716ThrfsTer16
XM_005267061.3:c.2147dup XP_005267118.1:p.Gln717ThrfsTer16
XM_017011085.1:c.2147dup XP_016866574.1:p.Gln717ThrfsTer16
NM_198569.3:c.2144dup MANE Select NP_940971.2:p.Gln716ThrfsTer16
NM_001032394.3:c.2060dup NP_001027566.2:p.Gln688ThrfsTer16
NM_001032395.3:c.2060dup NP_001027567.2:p.Gln688ThrfsTer16
NM_020455.6:c.2144dup NP_065188.5:p.Gln716ThrfsTer16
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