Canonical Allele Identifier: CA16042061

Linked Data

ClinVar Variation Id: 371822
dbSNP Id: rs1057517552

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47803462_47803469del , CM000664.2:g.47803462_47803469del GRCh38
NC_000002.11:g.48030601_48030608del , CM000664.1:g.48030601_48030608del GRCh37
NC_000002.10:g.47884105_47884112del NCBI36
NG_007111.1:g.25316_25323del , LRG_219:g.25316_25323del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.2918_2925del (MSH6) ENSP00000406248.2:p.Gly973ValfsTer18
ENST00000420813.6:c.2918_2925del (MSH6) ENSP00000390382.2:p.Gly973ValfsTer18
ENST00000455383.6:c.2918_2925del (MSH6) ENSP00000397484.2:p.Gly973ValfsTer18
ENST00000700004.2:c.3173-2156_3173-2149del (MSH6) ENSP00000514752.2:n.3173-2156_3173-2149de...
ENST00000699999.1:n.3299_3306del (MSH6)
ENST00000700000.1:c.1649_1656del (MSH6) ENSP00000514749.1:p.Gly550ValfsTer18
ENST00000700002.1:c.3221_3228del (MSH6) ENSP00000514750.1:p.Gly1074ValfsTer18
ENST00000700003.1:c.670_677del (MSH6) ENSP00000514751.1:p.Val224CysfsTer?
ENST00000700004.1:c.2330-2156_2330-2149del (MSH6) ENSP00000514752.1:n.2330-2156_2330-2149de...
ENST00000700005.1:n.2066_2073del (MSH6)
ENST00000700006.1:n.2063_2070del (MSH6)
ENST00000700007.1:n.1220_1227del (MSH6)
ENST00000700008.1:n.794_801del (MSH6)
ENST00000700009.1:n.793_800del (MSH6)
ENST00000700010.1:n.624_631del (MSH6)
ENST00000700011.1:n.695_702del (MSH6)
ENST00000234420.11:c.3215_3222del (MSH6) MANE Select ENSP00000234420.5:p.Gly1072ValfsTer18
ENST00000540021.6:c.2825_2832del (MSH6) ENSP00000446475.1:p.Gly942ValfsTer18
ENST00000652107.1:c.2918_2925del (MSH6) ENSP00000498629.1:p.Gly973ValfsTer18
ENST00000673637.1:c.2918_2925del (MSH6) ENSP00000501310.1:p.Gly973ValfsTer18
ENST00000234420.9:c.3215_3222del (MSH6) ENSP00000234420.4:p.Gly1072ValfsTer18
ENST00000405808.5:c.169+4729_169+4736del (FBXO11) ENSP00000385127.1:n.169+4729_169+4736del
ENST00000434234.5:c.*124+4528_*124+4535del (FBXO11) ENSP00000402692.1:n.*124+4528_*124+4535de...
ENST00000445503.5:c.*2562_*2569del (MSH6) ENSP00000405294.1:n.*2562_*2569del
ENST00000538136.1:c.2309_2316del (MSH6) ENSP00000438580.1:p.Gly770ValfsTer18
ENST00000540021.5:c.2825_2832del (MSH6) ENSP00000446475.1:p.Gly942ValfsTer18
ENST00000614496.4:c.2309_2316del (MSH6) ENSP00000477844.1:p.Gly770ValfsTer18
ENST00000622629.4:c.119_126del (MSH6) ENSP00000482078.1:p.Gly40ValfsTer18
NM_000179.2:c.3215_3222del , LRG_219t1:c.3215_3222del (MSH6) NP_000170.1:p.Gly1072ValfsTer18
NM_001281492.1:c.2825_2832del (MSH6) NP_001268421.1:p.Gly942ValfsTer18
NM_001281493.1:c.2309_2316del (MSH6) NP_001268422.1:p.Gly770ValfsTer18
NM_001281494.1:c.2309_2316del (MSH6) NP_001268423.1:p.Gly770ValfsTer18
XM_005264271.1:c.2918_2925del (MSH6) XP_005264328.1:p.Gly973ValfsTer18
XM_011532798.1:c.3032_3039del (MSH6) XP_011531100.1:p.Gly1011ValfsTer18
XM_011532799.1:c.2918_2925del (MSH6) XP_011531101.1:p.Gly973ValfsTer18
XM_011532800.1:c.2918_2925del (MSH6) XP_011531102.1:p.Gly973ValfsTer18
XM_024452819.1:c.3215_3222del (MSH6) XP_024308587.1:p.Gly1072ValfsTer18
XM_024452820.1:c.3032_3039del (MSH6) XP_024308588.1:p.Gly1011ValfsTer18
XM_024452821.1:c.2918_2925del (MSH6) XP_024308589.1:p.Gly973ValfsTer18
XM_024452822.1:c.2309_2316del (MSH6) XP_024308590.1:p.Gly770ValfsTer18
NM_000179.3:c.3215_3222del (MSH6) MANE Select NP_000170.1:p.Gly1072ValfsTer18
NM_001281492.2:c.2825_2832del (MSH6) NP_001268421.1:p.Gly942ValfsTer18
NM_001281493.2:c.2309_2316del (MSH6) NP_001268422.1:p.Gly770ValfsTer18
NM_001281494.2:c.2309_2316del (MSH6) NP_001268423.1:p.Gly770ValfsTer18