Canonical Allele Identifier: CA013147
Gene: MSH6 HGNC NCBI
FBXO11 HGNC NCBI

Linked Data

ClinVar Variation Id: 89401
ClinVar RCV Id: RCV000074869 RCV003450971
dbSNP Id: rs63751410
MyVariant Identifiers: chr2:g.48032121_48032122del (hg19) chr2:g.47804982_47804983del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47804982_47804983del , CM000664.2:g.47804982_47804983del GRCh38
NC_000002.11:g.48032121_48032122del , CM000664.1:g.48032121_48032122del GRCh37
NC_000002.10:g.47885625_47885626del NCBI36
NG_007111.1:g.26836_26837del , LRG_219:g.26836_26837del
NG_008397.1:g.105693_105694del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3214_3215del (MSH6) ENSP00000406248.2:p.Asp1072Ter
ENST00000420813.6:c.3214_3215del (MSH6) ENSP00000390382.2:p.Asp1072Ter
ENST00000455383.6:c.3214_3215del (MSH6) ENSP00000397484.2:p.Asp1072Ter
ENST00000700004.2:c.3173-636_3173-635del (MSH6) ENSP00000514752.2:n.3173-636_3173-635del
ENST00000699999.1:n.3595_3596del (MSH6)
ENST00000700000.1:c.1945_1946del (MSH6) ENSP00000514749.1:p.Asp649Ter
ENST00000700002.1:c.3517_3518del (MSH6) ENSP00000514750.1:p.Asp1173Ter
ENST00000700003.1:c.966_967del (MSH6) ENSP00000514751.1:n.966_967del
ENST00000700004.1:c.2330-636_2330-635del (MSH6) ENSP00000514752.1:n.2330-636_2330-635del
ENST00000700005.1:n.2362_2363del (MSH6)
ENST00000700006.1:n.3583_3584del (MSH6)
ENST00000700007.1:n.1516_1517del (MSH6)
ENST00000700008.1:n.1090_1091del (MSH6)
ENST00000700009.1:n.1089_1090del (MSH6)
ENST00000700010.1:n.920_921del (MSH6)
ENST00000700011.1:n.2215_2216del (MSH6)
ENST00000234420.11:c.3511_3512del (MSH6) MANE Select ENSP00000234420.5:p.Asp1171Ter
ENST00000540021.6:c.3121_3122del (MSH6) ENSP00000446475.1:p.Asp1041Ter
ENST00000652107.1:c.3214_3215del (MSH6) ENSP00000498629.1:p.Asp1072Ter
ENST00000673637.1:c.3214_3215del (MSH6) ENSP00000501310.1:p.Asp1072Ter
ENST00000234420.9:c.3511_3512del (MSH6) ENSP00000234420.4:p.Asp1171Ter
ENST00000405808.5:c.169+3212_169+3213del (FBXO11) ENSP00000385127.1:n.169+3212_169+3213del
ENST00000434234.5:c.*124+3011_*124+3012del (FBXO11) ENSP00000402692.1:n.*124+3011_*124+3012de...
ENST00000445503.5:c.*2858_*2859del (MSH6) ENSP00000405294.1:n.*2858_*2859del
ENST00000538136.1:c.2605_2606del (MSH6) ENSP00000438580.1:p.Asp869Ter
ENST00000540021.5:c.3121_3122del (MSH6) ENSP00000446475.1:p.Asp1041Ter
ENST00000614496.4:c.2605_2606del (MSH6) ENSP00000477844.1:p.Asp869Ter
ENST00000622629.4:c.415_416del (MSH6) ENSP00000482078.1:p.Asp139Ter
NM_000179.2:c.3511_3512del , LRG_219t1:c.3511_3512del (MSH6) NP_000170.1:p.Asp1171Ter
NM_001281492.1:c.3121_3122del (MSH6) NP_001268421.1:p.Asp1041Ter
NM_001281493.1:c.2605_2606del (MSH6) NP_001268422.1:p.Asp869Ter
NM_001281494.1:c.2605_2606del (MSH6) NP_001268423.1:p.Asp869Ter
XM_005264271.1:c.3214_3215del (MSH6) XP_005264328.1:p.Asp1072Ter
XM_011532798.1:c.3328_3329del (MSH6) XP_011531100.1:p.Asp1110Ter
XM_011532799.1:c.3214_3215del (MSH6) XP_011531101.1:p.Asp1072Ter
XM_011532800.1:c.3214_3215del (MSH6) XP_011531102.1:p.Asp1072Ter
XM_024452819.1:c.3511_3512del (MSH6) XP_024308587.1:p.Asp1171Ter
XM_024452820.1:c.3328_3329del (MSH6) XP_024308588.1:p.Asp1110Ter
XM_024452821.1:c.3214_3215del (MSH6) XP_024308589.1:p.Asp1072Ter
XM_024452822.1:c.2605_2606del (MSH6) XP_024308590.1:p.Asp869Ter
NM_000179.3:c.3511_3512del (MSH6) MANE Select NP_000170.1:p.Asp1171Ter
NM_001281492.2:c.3121_3122del (MSH6) NP_001268421.1:p.Asp1041Ter
NM_001281493.2:c.2605_2606del (MSH6) NP_001268422.1:p.Asp869Ter
NM_001281494.2:c.2605_2606del (MSH6) NP_001268423.1:p.Asp869Ter
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