Canonical Allele Identifier: CA2695200659

Linked Data

ClinVar Variation Id: 2673710
ClinVar RCV Id: RCV003450347

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47800003_47800040del , CM000664.2:g.47800003_47800040del GRCh38
NC_000002.11:g.48027142_48027179del , CM000664.1:g.48027142_48027179del GRCh37
NC_000002.10:g.47880646_47880683del NCBI36
NG_007111.1:g.21857_21894del , LRG_219:g.21857_21894del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.1723_1760del (MSH6) ENSP00000406248.2:p.Gly575LeufsTer11
ENST00000420813.6:c.1723_1760del (MSH6) ENSP00000390382.2:p.Gly575LeufsTer11
ENST00000455383.6:c.1723_1760del (MSH6) ENSP00000397484.2:p.Gly575LeufsTer11
ENST00000700004.2:c.2020_2057del (MSH6) ENSP00000514752.2:p.Gly674LeufsTer11
ENST00000699999.1:n.2104_2141del (MSH6)
ENST00000700000.1:c.1606+414_1606+451del (MSH6) ENSP00000514749.1:n.1606+414_1606+451del
ENST00000700002.1:c.2026_2063del (MSH6) ENSP00000514750.1:p.Gly676LeufsTer11
ENST00000700003.1:c.628-3417_628-3380del (MSH6) ENSP00000514751.1:n.628-3417_628-3380del
ENST00000700004.1:c.1177_1214del (MSH6) ENSP00000514752.1:p.Gly393LeufsTer11
ENST00000234420.11:c.2020_2057del (MSH6) MANE Select ENSP00000234420.5:p.Gly674LeufsTer11
ENST00000540021.6:c.1630_1667del (MSH6) ENSP00000446475.1:p.Gly544LeufsTer11
ENST00000652107.1:c.1723_1760del (MSH6) ENSP00000498629.1:p.Gly575LeufsTer11
ENST00000673637.1:c.1723_1760del (MSH6) ENSP00000501310.1:p.Gly575LeufsTer11
ENST00000234420.9:c.2020_2057del (MSH6) ENSP00000234420.4:p.Gly674LeufsTer11
ENST00000405808.5:c.169+8155_169+8192del (FBXO11) ENSP00000385127.1:n.169+8155_169+8192del
ENST00000434234.5:c.*124+7954_*124+7991del (FBXO11) ENSP00000402692.1:n.*124+7954_*124+7991de...
ENST00000445503.5:c.*1367_*1404del (MSH6) ENSP00000405294.1:n.*1367_*1404del
ENST00000538136.1:c.1114_1151del (MSH6) ENSP00000438580.1:p.Gly372LeufsTer11
ENST00000540021.5:c.1630_1667del (MSH6) ENSP00000446475.1:p.Gly544LeufsTer11
ENST00000614496.4:c.1114_1151del (MSH6) ENSP00000477844.1:p.Gly372LeufsTer11
ENST00000616033.4:c.2017_2054del (MSH6) ENSP00000480261.1:p.Gly673LeufsTer11
ENST00000622629.4:c.-1077_-1040del (MSH6) ENSP00000482078.1:n.-1077_-1040del
NM_000179.2:c.2020_2057del , LRG_219t1:c.2020_2057del (MSH6) NP_000170.1:p.Gly674LeufsTer11
NM_001281492.1:c.1630_1667del (MSH6) NP_001268421.1:p.Gly544LeufsTer11
NM_001281493.1:c.1114_1151del (MSH6) NP_001268422.1:p.Gly372LeufsTer11
NM_001281494.1:c.1114_1151del (MSH6) NP_001268423.1:p.Gly372LeufsTer11
XM_005264271.1:c.1723_1760del (MSH6) XP_005264328.1:p.Gly575LeufsTer11
XM_011532798.1:c.1837_1874del (MSH6) XP_011531100.1:p.Gly613LeufsTer11
XM_011532799.1:c.1723_1760del (MSH6) XP_011531101.1:p.Gly575LeufsTer11
XM_011532800.1:c.1723_1760del (MSH6) XP_011531102.1:p.Gly575LeufsTer11
XM_024452819.1:c.2020_2057del (MSH6) XP_024308587.1:p.Gly674LeufsTer11
XM_024452820.1:c.1837_1874del (MSH6) XP_024308588.1:p.Gly613LeufsTer11
XM_024452821.1:c.1723_1760del (MSH6) XP_024308589.1:p.Gly575LeufsTer11
XM_024452822.1:c.1114_1151del (MSH6) XP_024308590.1:p.Gly372LeufsTer11
NM_000179.3:c.2020_2057del (MSH6) MANE Select NP_000170.1:p.Gly674LeufsTer11
NM_001281492.2:c.1630_1667del (MSH6) NP_001268421.1:p.Gly544LeufsTer11
NM_001281493.2:c.1114_1151del (MSH6) NP_001268422.1:p.Gly372LeufsTer11
NM_001281494.2:c.1114_1151del (MSH6) NP_001268423.1:p.Gly372LeufsTer11