Canonical Allele Identifier: CA011409

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47801020_47801024del , CM000664.2:g.47801020_47801024del GRCh38
NC_000002.11:g.48028159_48028163del , CM000664.1:g.48028159_48028163del GRCh37
NC_000002.10:g.47881663_47881667del NCBI36
NG_007111.1:g.22874_22878del , LRG_219:g.22874_22878del

Transcript Alleles

HGVS Amino-acid Change
NM_000179.3:c.3037_3041del (MSH6) MANE Select NP_000170.1:p.Lys1013ValfsTer3
ENST00000234420.11:c.3037_3041del (MSH6) MANE Select ENSP00000234420.5:p.Lys1013ValfsTer3
NM_000179.2:c.3037_3041del , LRG_219t1:c.3037_3041del (MSH6) NP_000170.1:p.Lys1013ValfsTer3
NM_001281492.1:c.2647_2651del (MSH6) NP_001268421.1:p.Lys883ValfsTer3
NM_001281492.2:c.2647_2651del (MSH6) NP_001268421.1:p.Lys883ValfsTer3
NM_001281493.1:c.2131_2135del (MSH6) NP_001268422.1:p.Lys711ValfsTer3
NM_001281493.2:c.2131_2135del (MSH6) NP_001268422.1:p.Lys711ValfsTer3
NM_001281494.1:c.2131_2135del (MSH6) NP_001268423.1:p.Lys711ValfsTer3
NM_001281494.2:c.2131_2135del (MSH6) NP_001268423.1:p.Lys711ValfsTer3
ENST00000234420.9:c.3037_3041del (MSH6) ENSP00000234420.4:p.Lys1013ValfsTer3
ENST00000405808.5:c.169+7174_169+7178del (FBXO11) ENSP00000385127.1:n.169+7174_169+7178del
ENST00000411819.2:c.2740_2744del (MSH6) ENSP00000406248.2:p.Lys914ValfsTer3
ENST00000420813.6:c.2740_2744del (MSH6) ENSP00000390382.2:p.Lys914ValfsTer3
ENST00000434234.5:c.*124+6973_*124+6977del (FBXO11) ENSP00000402692.1:n.*124+6973_*124+6977del
ENST00000445503.5:c.*2384_*2388del (MSH6) ENSP00000405294.1:n.*2384_*2388del
ENST00000455383.6:c.2740_2744del (MSH6) ENSP00000397484.2:p.Lys914ValfsTer3
ENST00000538136.1:c.2131_2135del (MSH6) ENSP00000438580.1:p.Lys711ValfsTer3
ENST00000540021.5:c.2647_2651del (MSH6) ENSP00000446475.1:p.Lys883ValfsTer3
ENST00000540021.6:c.2647_2651del (MSH6) ENSP00000446475.1:p.Lys883ValfsTer3
ENST00000614496.4:c.2131_2135del (MSH6) ENSP00000477844.1:p.Lys711ValfsTer3
ENST00000616033.4:c.3034_3038del (MSH6) ENSP00000480261.1:p.Lys1012ValfsTer3
ENST00000622629.4:c.-60_-56del (MSH6) ENSP00000482078.1:n.-60_-56del
ENST00000652107.1:c.2740_2744del (MSH6) ENSP00000498629.1:p.Lys914ValfsTer3
ENST00000673637.1:c.2740_2744del (MSH6) ENSP00000501310.1:p.Lys914ValfsTer3
ENST00000699999.1:n.3121_3125del (MSH6)
ENST00000700000.1:c.1606+1431_1606+1435del (MSH6) ENSP00000514749.1:n.1606+1431_1606+1435del
ENST00000700002.1:c.3043_3047del (MSH6) ENSP00000514750.1:p.Lys1015ValfsTer3
ENST00000700003.1:c.628-2400_628-2396del (MSH6) ENSP00000514751.1:n.628-2400_628-2396del
ENST00000700004.1:c.2194_2198del (MSH6) ENSP00000514752.1:p.Lys732ValfsTer3
ENST00000700004.2:c.3037_3041del (MSH6) ENSP00000514752.2:p.Lys1013ValfsTer3
XM_005264271.1:c.2740_2744del (MSH6) XP_005264328.1:p.Lys914ValfsTer3
XM_011532798.1:c.2854_2858del (MSH6) XP_011531100.1:p.Lys952ValfsTer3
XM_011532799.1:c.2740_2744del (MSH6) XP_011531101.1:p.Lys914ValfsTer3
XM_011532800.1:c.2740_2744del (MSH6) XP_011531102.1:p.Lys914ValfsTer3
XM_024452819.1:c.3037_3041del (MSH6) XP_024308587.1:p.Lys1013ValfsTer3
XM_024452820.1:c.2854_2858del (MSH6) XP_024308588.1:p.Lys952ValfsTer3
XM_024452821.1:c.2740_2744del (MSH6) XP_024308589.1:p.Lys914ValfsTer3
XM_024452822.1:c.2131_2135del (MSH6) XP_024308590.1:p.Lys711ValfsTer3