Canonical Allele Identifier: CA2697548134

Linked Data

ClinVar Variation Id: 2698195
ClinVar RCV Id: RCV003594822

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47800849_47800852del , CM000664.2:g.47800849_47800852del GRCh38
NC_000002.11:g.48027988_48027991del , CM000664.1:g.48027988_48027991del GRCh37
NC_000002.10:g.47881492_47881495del NCBI36
NG_007111.1:g.22703_22706del , LRG_219:g.22703_22706del

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.2569_2572del (MSH6) ENSP00000406248.2:p.Glu857AsnfsTer11
ENST00000420813.6:c.2569_2572del (MSH6) ENSP00000390382.2:p.Glu857AsnfsTer11
ENST00000455383.6:c.2569_2572del (MSH6) ENSP00000397484.2:p.Glu857AsnfsTer11
ENST00000700004.2:c.2866_2869del (MSH6) ENSP00000514752.2:p.Glu956AsnfsTer11
ENST00000699999.1:n.2950_2953del (MSH6)
ENST00000700000.1:c.1606+1260_1606+1263del (MSH6) ENSP00000514749.1:n.1606+1260_1606+1263del
ENST00000700002.1:c.2872_2875del (MSH6) ENSP00000514750.1:p.Glu958AsnfsTer11
ENST00000700003.1:c.628-2571_628-2568del (MSH6) ENSP00000514751.1:n.628-2571_628-2568del
ENST00000700004.1:c.2023_2026del (MSH6) ENSP00000514752.1:p.Glu675AsnfsTer11
ENST00000234420.11:c.2866_2869del (MSH6) MANE Select ENSP00000234420.5:p.Glu956AsnfsTer11
ENST00000540021.6:c.2476_2479del (MSH6) ENSP00000446475.1:p.Glu826AsnfsTer11
ENST00000652107.1:c.2569_2572del (MSH6) ENSP00000498629.1:p.Glu857AsnfsTer11
ENST00000673637.1:c.2569_2572del (MSH6) ENSP00000501310.1:p.Glu857AsnfsTer11
ENST00000234420.9:c.2866_2869del (MSH6) ENSP00000234420.4:p.Glu956AsnfsTer11
ENST00000405808.5:c.169+7344_169+7347del (FBXO11) ENSP00000385127.1:n.169+7344_169+7347del
ENST00000434234.5:c.*124+7143_*124+7146del (FBXO11) ENSP00000402692.1:n.*124+7143_*124+7146del
ENST00000445503.5:c.*2213_*2216del (MSH6) ENSP00000405294.1:n.*2213_*2216del
ENST00000538136.1:c.1960_1963del (MSH6) ENSP00000438580.1:p.Glu654AsnfsTer11
ENST00000540021.5:c.2476_2479del (MSH6) ENSP00000446475.1:p.Glu826AsnfsTer11
ENST00000614496.4:c.1960_1963del (MSH6) ENSP00000477844.1:p.Glu654AsnfsTer11
ENST00000616033.4:c.2863_2866del (MSH6) ENSP00000480261.1:p.Glu955AsnfsTer11
ENST00000622629.4:c.-231_-228del (MSH6) ENSP00000482078.1:n.-231_-228del
NM_000179.2:c.2866_2869del , LRG_219t1:c.2866_2869del (MSH6) NP_000170.1:p.Glu956AsnfsTer11
NM_001281492.1:c.2476_2479del (MSH6) NP_001268421.1:p.Glu826AsnfsTer11
NM_001281493.1:c.1960_1963del (MSH6) NP_001268422.1:p.Glu654AsnfsTer11
NM_001281494.1:c.1960_1963del (MSH6) NP_001268423.1:p.Glu654AsnfsTer11
XM_005264271.1:c.2569_2572del (MSH6) XP_005264328.1:p.Glu857AsnfsTer11
XM_011532798.1:c.2683_2686del (MSH6) XP_011531100.1:p.Glu895AsnfsTer11
XM_011532799.1:c.2569_2572del (MSH6) XP_011531101.1:p.Glu857AsnfsTer11
XM_011532800.1:c.2569_2572del (MSH6) XP_011531102.1:p.Glu857AsnfsTer11
XM_024452819.1:c.2866_2869del (MSH6) XP_024308587.1:p.Glu956AsnfsTer11
XM_024452820.1:c.2683_2686del (MSH6) XP_024308588.1:p.Glu895AsnfsTer11
XM_024452821.1:c.2569_2572del (MSH6) XP_024308589.1:p.Glu857AsnfsTer11
XM_024452822.1:c.1960_1963del (MSH6) XP_024308590.1:p.Glu654AsnfsTer11
NM_000179.3:c.2866_2869del (MSH6) MANE Select NP_000170.1:p.Glu956AsnfsTer11
NM_001281492.2:c.2476_2479del (MSH6) NP_001268421.1:p.Glu826AsnfsTer11
NM_001281493.2:c.1960_1963del (MSH6) NP_001268422.1:p.Glu654AsnfsTer11
NM_001281494.2:c.1960_1963del (MSH6) NP_001268423.1:p.Glu654AsnfsTer11