Canonical Allele Identifier: CA2580067207

Linked Data

ClinVar Variation Id: 1963329
ClinVar RCV Id: RCV002711086

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47798655_47798681del , CM000664.2:g.47798655_47798681del GRCh38
NC_000002.11:g.48025794_48025820del , CM000664.1:g.48025794_48025820del GRCh37
NC_000002.10:g.47879298_47879324del NCBI36
NG_007111.1:g.20509_20535del , LRG_219:g.20509_20535del

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.375_401del (MSH6) ENSP00000406248.2:p.Glu125_Pro134delinsAsp
ENST00000420813.6:c.375_401del (MSH6) ENSP00000390382.2:p.Glu125_Pro134delinsAsp
ENST00000455383.6:c.375_401del (MSH6) ENSP00000397484.2:p.Glu125_Pro134delinsAsp
ENST00000700004.2:c.672_698del (MSH6) ENSP00000514752.2:p.Glu224_Pro233delinsAsp
ENST00000699999.1:n.756_782del (MSH6)
ENST00000700000.1:c.672_698del (MSH6) ENSP00000514749.1:p.Glu224_Pro233delinsAsp
ENST00000700002.1:c.678_704del (MSH6) ENSP00000514750.1:p.Glu226_Pro235delinsAsp
ENST00000700003.1:c.627+2592_627+2618del (MSH6) ENSP00000514751.1:n.627+2592_627+2618del
ENST00000234420.11:c.672_698del (MSH6) MANE Select ENSP00000234420.5:p.Glu224_Pro233delinsAsp
ENST00000540021.6:c.282_308del (MSH6) ENSP00000446475.1:p.Glu94_Pro103delinsAsp
ENST00000652107.1:c.375_401del (MSH6) ENSP00000498629.1:p.Glu125_Pro134delinsAsp
ENST00000673637.1:c.375_401del (MSH6) ENSP00000501310.1:p.Glu125_Pro134delinsAsp
ENST00000673922.1:n.394_420del (MSH6)
ENST00000234420.9:c.672_698del (MSH6) ENSP00000234420.4:p.Glu224_Pro233delinsAsp
ENST00000405808.5:c.170-9241_170-9215del (FBXO11) ENSP00000385127.1:n.170-9241_170-9215del
ENST00000411819.1:c.375_401del (MSH6) ENSP00000406248.1:p.Glu125_Pro134delinsAsp
ENST00000434234.5:c.*125-9241_*125-9215del (FBXO11) ENSP00000402692.1:n.*125-9241_*125-9215del
ENST00000445503.5:c.*19_*45del (MSH6) ENSP00000405294.1:n.*19_*45del
ENST00000456246.1:c.*160_*186del (MSH6) ENSP00000410570.1:n.*160_*186del
ENST00000538136.1:c.-235_-209del (MSH6) ENSP00000438580.1:n.-235_-209del
ENST00000540021.5:c.282_308del (MSH6) ENSP00000446475.1:p.Glu94_Pro103delinsAsp
ENST00000614496.4:c.-235_-209del (MSH6) ENSP00000477844.1:n.-235_-209del
ENST00000616033.4:c.669_695del (MSH6) ENSP00000480261.1:p.Glu223_Pro232delinsAsp
ENST00000622629.4:c.-2425_-2399del (MSH6) ENSP00000482078.1:n.-2425_-2399del
NM_000179.2:c.672_698del , LRG_219t1:c.672_698del (MSH6) NP_000170.1:p.Glu224_Pro233delinsAsp
NM_001281492.1:c.282_308del (MSH6) NP_001268421.1:p.Glu94_Pro103delinsAsp
NM_001281493.1:c.-235_-209del (MSH6) NP_001268422.1:n.-235_-209del
NM_001281494.1:c.-235_-209del (MSH6) NP_001268423.1:n.-235_-209del
XM_005264271.1:c.375_401del (MSH6) XP_005264328.1:p.Glu125_Pro134delinsAsp
XM_011532798.1:c.489_515del (MSH6) XP_011531100.1:p.Glu163_Pro172delinsAsp
XM_011532799.1:c.375_401del (MSH6) XP_011531101.1:p.Glu125_Pro134delinsAsp
XM_011532800.1:c.375_401del (MSH6) XP_011531102.1:p.Glu125_Pro134delinsAsp
XM_024452819.1:c.672_698del (MSH6) XP_024308587.1:p.Glu224_Pro233delinsAsp
XM_024452820.1:c.489_515del (MSH6) XP_024308588.1:p.Glu163_Pro172delinsAsp
XM_024452821.1:c.375_401del (MSH6) XP_024308589.1:p.Glu125_Pro134delinsAsp
XM_024452822.1:c.-235_-209del (MSH6) XP_024308590.1:n.-235_-209del
NM_000179.3:c.672_698del (MSH6) MANE Select NP_000170.1:p.Glu224_Pro233delinsAsp
NM_001281492.2:c.282_308del (MSH6) NP_001268421.1:p.Glu94_Pro103delinsAsp
NM_001281493.2:c.-235_-209del (MSH6) NP_001268422.1:n.-235_-209del
NM_001281494.2:c.-235_-209del (MSH6) NP_001268423.1:n.-235_-209del