Canonical Allele Identifier: CA2586969264

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47798914_47798918del , CM000664.2:g.47798914_47798918del GRCh38
NC_000002.11:g.48026053_48026057del , CM000664.1:g.48026053_48026057del GRCh37
NC_000002.10:g.47879557_47879561del NCBI36
NG_007111.1:g.20768_20772del , LRG_219:g.20768_20772del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.634_638del (MSH6) ENSP00000406248.2:p.Lys212GlufsTer4
ENST00000420813.6:c.634_638del (MSH6) ENSP00000390382.2:p.Lys212GlufsTer4
ENST00000455383.6:c.634_638del (MSH6) ENSP00000397484.2:p.Lys212GlufsTer4
ENST00000700004.2:c.931_935del (MSH6) ENSP00000514752.2:p.Lys311GlufsTer4
ENST00000699999.1:n.1015_1019del (MSH6)
ENST00000700000.1:c.931_935del (MSH6) ENSP00000514749.1:p.Lys311GlufsTer4
ENST00000700002.1:c.937_941del (MSH6) ENSP00000514750.1:p.Lys313GlufsTer4
ENST00000700003.1:c.627+2851_627+2855del (MSH6) ENSP00000514751.1:n.627+2851_627+2855del
ENST00000700004.1:c.88_92del (MSH6) ENSP00000514752.1:p.Lys30GlufsTer4
ENST00000234420.11:c.931_935del (MSH6) MANE Select ENSP00000234420.5:p.Lys311GlufsTer4
ENST00000540021.6:c.541_545del (MSH6) ENSP00000446475.1:p.Lys181GlufsTer4
ENST00000652107.1:c.634_638del (MSH6) ENSP00000498629.1:p.Lys212GlufsTer4
ENST00000673637.1:c.634_638del (MSH6) ENSP00000501310.1:p.Lys212GlufsTer4
ENST00000234420.9:c.931_935del (MSH6) ENSP00000234420.4:p.Lys311GlufsTer4
ENST00000405808.5:c.169+9277_169+9281del (FBXO11) ENSP00000385127.1:n.169+9277_169+9281del
ENST00000434234.5:c.*124+9076_*124+9080del (FBXO11) ENSP00000402692.1:n.*124+9076_*124+9080de...
ENST00000445503.5:c.*278_*282del (MSH6) ENSP00000405294.1:n.*278_*282del
ENST00000456246.1:c.*419_*423del (MSH6) ENSP00000410570.1:n.*419_*423del
ENST00000538136.1:c.25_29del (MSH6) ENSP00000438580.1:p.Lys9GlufsTer4
ENST00000540021.5:c.541_545del (MSH6) ENSP00000446475.1:p.Lys181GlufsTer4
ENST00000614496.4:c.25_29del (MSH6) ENSP00000477844.1:p.Lys9GlufsTer4
ENST00000616033.4:c.928_932del (MSH6) ENSP00000480261.1:p.Lys310GlufsTer4
ENST00000622629.4:c.-2166_-2162del (MSH6) ENSP00000482078.1:n.-2166_-2162del
NM_000179.2:c.931_935del , LRG_219t1:c.931_935del (MSH6) NP_000170.1:p.Lys311GlufsTer4
NM_001281492.1:c.541_545del (MSH6) NP_001268421.1:p.Lys181GlufsTer4
NM_001281493.1:c.25_29del (MSH6) NP_001268422.1:p.Lys9GlufsTer4
NM_001281494.1:c.25_29del (MSH6) NP_001268423.1:p.Lys9GlufsTer4
XM_005264271.1:c.634_638del (MSH6) XP_005264328.1:p.Lys212GlufsTer4
XM_011532798.1:c.748_752del (MSH6) XP_011531100.1:p.Lys250GlufsTer4
XM_011532799.1:c.634_638del (MSH6) XP_011531101.1:p.Lys212GlufsTer4
XM_011532800.1:c.634_638del (MSH6) XP_011531102.1:p.Lys212GlufsTer4
XM_024452819.1:c.931_935del (MSH6) XP_024308587.1:p.Lys311GlufsTer4
XM_024452820.1:c.748_752del (MSH6) XP_024308588.1:p.Lys250GlufsTer4
XM_024452821.1:c.634_638del (MSH6) XP_024308589.1:p.Lys212GlufsTer4
XM_024452822.1:c.25_29del (MSH6) XP_024308590.1:p.Lys9GlufsTer4
NM_000179.3:c.931_935del (MSH6) MANE Select NP_000170.1:p.Lys311GlufsTer4
NM_001281492.2:c.541_545del (MSH6) NP_001268421.1:p.Lys181GlufsTer4
NM_001281493.2:c.25_29del (MSH6) NP_001268422.1:p.Lys9GlufsTer4
NM_001281494.2:c.25_29del (MSH6) NP_001268423.1:p.Lys9GlufsTer4