Canonical Allele Identifier: CA16610988
Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 410412
dbSNP Id: rs1060502886

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799798_47799799del , CM000664.2:g.47799798_47799799del GRCh38
NC_000002.11:g.48026937_48026938del , CM000664.1:g.48026937_48026938del GRCh37
NC_000002.10:g.47880441_47880442del NCBI36
NG_007111.1:g.21652_21653del , LRG_219:g.21652_21653del

Transcript Alleles

HGVS Amino-acid change
ENST00000234420.11:c.1815_1816del MANE Select ENSP00000234420.5:p.Lys606AsnfsTer?
ENST00000540021.6:c.1425_1426del ENSP00000446475.1:p.Lys476AsnfsTer?
ENST00000652107.1:c.1518_1519del ENSP00000498629.1:p.Lys507AsnfsTer?
ENST00000673637.1:c.1518_1519del ENSP00000501310.1:p.Lys507AsnfsTer?
ENST00000234420.9:c.1815_1816del ENSP00000234420.4:p.Lys606AsnfsTer?
ENST00000405808.5:c.169+8396_169+8397del ENSP00000385127.1:p.=
ENST00000434234.5:c.*124+8195_*124+8196del ENSP00000402692.1:p.=
ENST00000445503.5:c.*1162_*1163del ENSP00000405294.1:p.=
ENST00000538136.1:c.909_910del ENSP00000438580.1:p.Lys304AsnfsTer?
ENST00000540021.5:c.1425_1426del ENSP00000446475.1:p.Lys476AsnfsTer?
ENST00000614496.4:c.909_910del ENSP00000477844.1:p.Lys304AsnfsTer?
ENST00000616033.4:c.1812_1813del ENSP00000480261.1:p.Lys605AsnfsTer?
ENST00000622629.4:c.-1282_-1281del ENSP00000482078.1:p.=
NM_000179.2:c.1815_1816del , LRG_219t1:c.1815_1816del NP_000170.1:p.Lys606AsnfsTer?
NM_001281492.1:c.1425_1426del NP_001268421.1:p.Lys476AsnfsTer?
NM_001281493.1:c.909_910del NP_001268422.1:p.Lys304AsnfsTer?
NM_001281494.1:c.909_910del NP_001268423.1:p.Lys304AsnfsTer?
XM_005264271.1:c.1518_1519del XP_005264328.1:p.Lys507AsnfsTer?
XM_011532798.1:c.1632_1633del XP_011531100.1:p.Lys545AsnfsTer?
XM_011532799.1:c.1518_1519del XP_011531101.1:p.Lys507AsnfsTer?
XM_011532800.1:c.1518_1519del XP_011531102.1:p.Lys507AsnfsTer?
XM_024452819.1:c.1815_1816del XP_024308587.1:p.Lys606AsnfsTer?
XM_024452820.1:c.1632_1633del XP_024308588.1:p.Lys545AsnfsTer?
XM_024452821.1:c.1518_1519del XP_024308589.1:p.Lys507AsnfsTer?
XM_024452822.1:c.909_910del XP_024308590.1:p.Lys304AsnfsTer?
NM_000179.3:c.1815_1816del MANE Select NP_000170.1:p.Lys606AsnfsTer?
NM_001281492.2:c.1425_1426del NP_001268421.1:p.Lys476AsnfsTer?
NM_001281493.2:c.909_910del NP_001268422.1:p.Lys304AsnfsTer?
NM_001281494.2:c.909_910del NP_001268423.1:p.Lys304AsnfsTer?