Canonical Allele Identifier: CA009238
Gene: MSH6 HGNC NCBI
FBXO11 HGNC NCBI

Linked Data

ClinVar Variation Id: 89224
ClinVar RCV Id: RCV000074687 RCV000558537 RCV000985827 RCV000986718 RCV001358609
dbSNP Id: rs63750735
gnomAD v4: 2-47799788-CAAAG-C
MyVariant Identifiers: chr2:g.48026928_48026931del (hg19) chr2:g.47799789_47799792del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799789_47799792del , CM000664.2:g.47799789_47799792del GRCh38
NC_000002.11:g.48026928_48026931del , CM000664.1:g.48026928_48026931del GRCh37
NC_000002.10:g.47880432_47880435del NCBI36
NG_007111.1:g.21643_21646del , LRG_219:g.21643_21646del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.1509_1512del (MSH6) ENSP00000406248.2:p.Glu505LeufsTer5
ENST00000420813.6:c.1509_1512del (MSH6) ENSP00000390382.2:p.Glu505LeufsTer5
ENST00000455383.6:c.1509_1512del (MSH6) ENSP00000397484.2:p.Glu505LeufsTer5
ENST00000700004.2:c.1806_1809del (MSH6) ENSP00000514752.2:p.Glu604LeufsTer5
ENST00000699999.1:n.1890_1893del (MSH6)
ENST00000700000.1:c.1606+200_1606+203del (MSH6) ENSP00000514749.1:n.1606+200_1606+203del
ENST00000700002.1:c.1812_1815del (MSH6) ENSP00000514750.1:p.Glu606LeufsTer5
ENST00000700003.1:c.628-3631_628-3628del (MSH6) ENSP00000514751.1:n.628-3631_628-3628del
ENST00000700004.1:c.963_966del (MSH6) ENSP00000514752.1:p.Glu323LeufsTer5
ENST00000234420.11:c.1806_1809del (MSH6) MANE Select ENSP00000234420.5:p.Glu604LeufsTer5
ENST00000540021.6:c.1416_1419del (MSH6) ENSP00000446475.1:p.Glu474LeufsTer5
ENST00000652107.1:c.1509_1512del (MSH6) ENSP00000498629.1:p.Glu505LeufsTer5
ENST00000673637.1:c.1509_1512del (MSH6) ENSP00000501310.1:p.Glu505LeufsTer5
ENST00000234420.9:c.1806_1809del (MSH6) ENSP00000234420.4:p.Glu604LeufsTer5
ENST00000405808.5:c.169+8403_169+8406del (FBXO11) ENSP00000385127.1:n.169+8403_169+8406del
ENST00000434234.5:c.*124+8202_*124+8205del (FBXO11) ENSP00000402692.1:n.*124+8202_*124+8205de...
ENST00000445503.5:c.*1153_*1156del (MSH6) ENSP00000405294.1:n.*1153_*1156del
ENST00000538136.1:c.900_903del (MSH6) ENSP00000438580.1:p.Glu302LeufsTer5
ENST00000540021.5:c.1416_1419del (MSH6) ENSP00000446475.1:p.Glu474LeufsTer5
ENST00000614496.4:c.900_903del (MSH6) ENSP00000477844.1:p.Glu302LeufsTer5
ENST00000616033.4:c.1803_1806del (MSH6) ENSP00000480261.1:p.Glu603LeufsTer5
ENST00000622629.4:c.-1291_-1288del (MSH6) ENSP00000482078.1:n.-1291_-1288del
NM_000179.2:c.1806_1809del , LRG_219t1:c.1806_1809del (MSH6) NP_000170.1:p.Glu604LeufsTer5
NM_001281492.1:c.1416_1419del (MSH6) NP_001268421.1:p.Glu474LeufsTer5
NM_001281493.1:c.900_903del (MSH6) NP_001268422.1:p.Glu302LeufsTer5
NM_001281494.1:c.900_903del (MSH6) NP_001268423.1:p.Glu302LeufsTer5
XM_005264271.1:c.1509_1512del (MSH6) XP_005264328.1:p.Glu505LeufsTer5
XM_011532798.1:c.1623_1626del (MSH6) XP_011531100.1:p.Glu543LeufsTer5
XM_011532799.1:c.1509_1512del (MSH6) XP_011531101.1:p.Glu505LeufsTer5
XM_011532800.1:c.1509_1512del (MSH6) XP_011531102.1:p.Glu505LeufsTer5
XM_024452819.1:c.1806_1809del (MSH6) XP_024308587.1:p.Glu604LeufsTer5
XM_024452820.1:c.1623_1626del (MSH6) XP_024308588.1:p.Glu543LeufsTer5
XM_024452821.1:c.1509_1512del (MSH6) XP_024308589.1:p.Glu505LeufsTer5
XM_024452822.1:c.900_903del (MSH6) XP_024308590.1:p.Glu302LeufsTer5
NM_000179.3:c.1806_1809del (MSH6) MANE Select NP_000170.1:p.Glu604LeufsTer5
NM_001281492.2:c.1416_1419del (MSH6) NP_001268421.1:p.Glu474LeufsTer5
NM_001281493.2:c.900_903del (MSH6) NP_001268422.1:p.Glu302LeufsTer5
NM_001281494.2:c.900_903del (MSH6) NP_001268423.1:p.Glu302LeufsTer5
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