Canonical Allele Identifier: CA015027
Gene: MSH6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 89495
ClinVar RCV Id: RCV000074963
dbSNP Id: rs267608124

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806634_47806635insATCA , CM000664.2:g.47806634_47806635insATCA GRCh38
NC_000002.11:g.48033773_48033774insATCA , CM000664.1:g.48033773_48033774insATCA GRCh37
NC_000002.10:g.47887277_47887278insATCA NCBI36
NG_007111.1:g.28488_28489insATCA , LRG_219:g.28488_28489insATCA
NG_008397.1:g.104041_104042insTGAT

Transcript Alleles

HGVS Amino-acid change
NM_000179.2:c.3984_3985insATCA , LRG_219t1:c.3984_3985insATCA NP_000170.1:p.Ser1329IlefsTer13
NM_001281492.1:c.3594_3595insATCA VV NP_001268421.1:p.Ser1199IlefsTer13
NM_001281493.1:c.3078_3079insATCA VV NP_001268422.1:p.Ser1027IlefsTer13
NM_001281494.1:c.3078_3079insATCA VV NP_001268423.1:p.Ser1027IlefsTer13
XM_005264271.1:c.3687_3688insATCA XP_005264328.1:p.Ser1230IlefsTer13
XM_011532798.1:c.3801_3802insATCA XP_011531100.1:p.Ser1268IlefsTer13
XM_011532799.1:c.3687_3688insATCA XP_011531101.1:p.Ser1230IlefsTer13
XM_011532800.1:c.3687_3688insATCA XP_011531102.1:p.Ser1230IlefsTer13
XM_024452819.1:c.4077_4078insATCA XP_024308587.1:p.Ser1360IlefsTer13
XM_024452820.1:c.3894_3895insATCA XP_024308588.1:p.Ser1299IlefsTer13
XM_024452821.1:c.3780_3781insATCA XP_024308589.1:p.Ser1261IlefsTer13
XM_024452822.1:c.3171_3172insATCA XP_024308590.1:p.Ser1058IlefsTer13
ENST00000234420.9:c.3984_3985insATCA ENSP00000234420.4:p.Ser1329IlefsTer13
ENST00000405808.5:c.169+1560_169+1561insTGAT ENSP00000385127.1:p.=
ENST00000434234.5:c.*124+1359_*124+1360insTGAT ENSP00000402692.1:p.=
ENST00000445503.5:c.*3331_*3332insATCA ENSP00000405294.1:p.=
ENST00000538136.1:c.3078_3079insATCA ENSP00000438580.1:p.Ser1027IlefsTer13
ENST00000540021.5:c.3594_3595insATCA ENSP00000446475.1:p.Ser1199IlefsTer13
ENST00000614496.4:c.3078_3079insATCA ENSP00000477844.1:p.Ser1027IlefsTer13
ENST00000622629.4:c.885_886insATCA ENSP00000482078.1:p.Ser296IlefsTer13