Canonical Allele Identifier: CA16610956
Gene: MSH6 HGNC NCBI
FBXO11 HGNC NCBI

Linked Data

ClinVar Variation Id: 410522
ClinVar RCV Id: RCV002230420 RCV002379470 RCV003449152
dbSNP Id: rs1060502940
gnomAD v4: 2-47799315-CAG-C
MyVariant Identifiers: chr2:g.48026455_48026456del (hg19) chr2:g.47799316_47799317del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799316_47799317del , CM000664.2:g.47799316_47799317del GRCh38
NC_000002.11:g.48026455_48026456del , CM000664.1:g.48026455_48026456del GRCh37
NC_000002.10:g.47879959_47879960del NCBI36
NG_007111.1:g.21170_21171del , LRG_219:g.21170_21171del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.1036_1037del (MSH6) ENSP00000406248.2:p.Ser346Ter
ENST00000420813.6:c.1036_1037del (MSH6) ENSP00000390382.2:p.Ser346Ter
ENST00000455383.6:c.1036_1037del (MSH6) ENSP00000397484.2:p.Ser346Ter
ENST00000700004.2:c.1333_1334del (MSH6) ENSP00000514752.2:p.Ser445Ter
ENST00000699999.1:n.1417_1418del (MSH6)
ENST00000700000.1:c.1333_1334del (MSH6) ENSP00000514749.1:p.Ser445Ter
ENST00000700002.1:c.1339_1340del (MSH6) ENSP00000514750.1:p.Ser447Ter
ENST00000700003.1:c.627+3253_627+3254del (MSH6) ENSP00000514751.1:n.627+3253_627+3254del
ENST00000700004.1:c.490_491del (MSH6) ENSP00000514752.1:p.Ser164Ter
ENST00000234420.11:c.1333_1334del (MSH6) MANE Select ENSP00000234420.5:p.Ser445Ter
ENST00000540021.6:c.943_944del (MSH6) ENSP00000446475.1:p.Ser315Ter
ENST00000652107.1:c.1036_1037del (MSH6) ENSP00000498629.1:p.Ser346Ter
ENST00000673637.1:c.1036_1037del (MSH6) ENSP00000501310.1:p.Ser346Ter
ENST00000234420.9:c.1333_1334del (MSH6) ENSP00000234420.4:p.Ser445Ter
ENST00000405808.5:c.169+8878_169+8879del (FBXO11) ENSP00000385127.1:n.169+8878_169+8879del
ENST00000434234.5:c.*124+8677_*124+8678del (FBXO11) ENSP00000402692.1:n.*124+8677_*124+8678de...
ENST00000445503.5:c.*680_*681del (MSH6) ENSP00000405294.1:n.*680_*681del
ENST00000538136.1:c.427_428del (MSH6) ENSP00000438580.1:p.Ser143Ter
ENST00000540021.5:c.943_944del (MSH6) ENSP00000446475.1:p.Ser315Ter
ENST00000614496.4:c.427_428del (MSH6) ENSP00000477844.1:p.Ser143Ter
ENST00000616033.4:c.1330_1331del (MSH6) ENSP00000480261.1:p.Ser444Ter
ENST00000622629.4:c.-1764_-1763del (MSH6) ENSP00000482078.1:n.-1764_-1763del
NM_000179.2:c.1333_1334del , LRG_219t1:c.1333_1334del (MSH6) NP_000170.1:p.Ser445Ter
NM_001281492.1:c.943_944del (MSH6) NP_001268421.1:p.Ser315Ter
NM_001281493.1:c.427_428del (MSH6) NP_001268422.1:p.Ser143Ter
NM_001281494.1:c.427_428del (MSH6) NP_001268423.1:p.Ser143Ter
XM_005264271.1:c.1036_1037del (MSH6) XP_005264328.1:p.Ser346Ter
XM_011532798.1:c.1150_1151del (MSH6) XP_011531100.1:p.Ser384Ter
XM_011532799.1:c.1036_1037del (MSH6) XP_011531101.1:p.Ser346Ter
XM_011532800.1:c.1036_1037del (MSH6) XP_011531102.1:p.Ser346Ter
XM_024452819.1:c.1333_1334del (MSH6) XP_024308587.1:p.Ser445Ter
XM_024452820.1:c.1150_1151del (MSH6) XP_024308588.1:p.Ser384Ter
XM_024452821.1:c.1036_1037del (MSH6) XP_024308589.1:p.Ser346Ter
XM_024452822.1:c.427_428del (MSH6) XP_024308590.1:p.Ser143Ter
NM_000179.3:c.1333_1334del (MSH6) MANE Select NP_000170.1:p.Ser445Ter
NM_001281492.2:c.943_944del (MSH6) NP_001268421.1:p.Ser315Ter
NM_001281493.2:c.427_428del (MSH6) NP_001268422.1:p.Ser143Ter
NM_001281494.2:c.427_428del (MSH6) NP_001268423.1:p.Ser143Ter
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