Canonical Allele Identifier: CA013580

Linked Data

ClinVar Variation Id: 89427
ClinVar RCV Id: RCV000074895
dbSNP Id: rs63750731

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47805696dup , CM000664.2:g.47805696dup GRCh38
NC_000002.11:g.48032835dup , CM000664.1:g.48032835dup GRCh37
NC_000002.10:g.47886339dup NCBI36
NG_007111.1:g.27550dup , LRG_219:g.27550dup
NG_008397.1:g.104980dup

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3338dup (MSH6) ENSP00000406248.2:p.Asp1114GlyfsTer2
ENST00000420813.6:c.3338dup (MSH6) ENSP00000390382.2:p.Asp1114GlyfsTer2
ENST00000455383.6:c.3338dup (MSH6) ENSP00000397484.2:p.Asp1114GlyfsTer2
ENST00000700004.2:c.3251dup (MSH6) ENSP00000514752.2:p.Asp1085GlyfsTer2
ENST00000699999.1:n.4309dup (MSH6)
ENST00000700000.1:c.2069dup (MSH6) ENSP00000514749.1:p.Asp691GlyfsTer2
ENST00000700002.1:c.3641dup (MSH6) ENSP00000514750.1:p.Asp1215GlyfsTer2
ENST00000700003.1:c.1090dup (MSH6) ENSP00000514751.1:n.1090dup
ENST00000700004.1:c.2408dup (MSH6) ENSP00000514752.1:p.Asp804GlyfsTer2
ENST00000700005.1:n.2486dup (MSH6)
ENST00000700006.1:n.4297dup (MSH6)
ENST00000700007.1:n.2230dup (MSH6)
ENST00000700008.1:n.1804dup (MSH6)
ENST00000700009.1:n.1803dup (MSH6)
ENST00000700010.1:n.1044dup (MSH6)
ENST00000700011.1:n.2929dup (MSH6)
ENST00000234420.11:c.3635dup (MSH6) MANE Select ENSP00000234420.5:p.Asp1213GlyfsTer2
ENST00000540021.6:c.3245dup (MSH6) ENSP00000446475.1:p.Asp1083GlyfsTer2
ENST00000652107.1:c.3338dup (MSH6) ENSP00000498629.1:p.Asp1114GlyfsTer2
ENST00000673637.1:c.3338dup (MSH6) ENSP00000501310.1:p.Asp1114GlyfsTer2
ENST00000234420.9:c.3635dup (MSH6) ENSP00000234420.4:p.Asp1213GlyfsTer2
ENST00000405808.5:c.169+2499dup (FBXO11) ENSP00000385127.1:n.169+2499dup
ENST00000434234.5:c.*124+2298dup (FBXO11) ENSP00000402692.1:n.*124+2298dup
ENST00000445503.5:c.*2982dup (MSH6) ENSP00000405294.1:n.*2982dup
ENST00000538136.1:c.2729dup (MSH6) ENSP00000438580.1:p.Asp911GlyfsTer2
ENST00000540021.5:c.3245dup (MSH6) ENSP00000446475.1:p.Asp1083GlyfsTer2
ENST00000614496.4:c.2729dup (MSH6) ENSP00000477844.1:p.Asp911GlyfsTer2
ENST00000622629.4:c.539dup (MSH6) ENSP00000482078.1:p.Asp181GlyfsTer2
NM_000179.2:c.3635dup , LRG_219t1:c.3635dup (MSH6) NP_000170.1:p.Asp1213GlyfsTer2
NM_001281492.1:c.3245dup (MSH6) NP_001268421.1:p.Asp1083GlyfsTer2
NM_001281493.1:c.2729dup (MSH6) NP_001268422.1:p.Asp911GlyfsTer2
NM_001281494.1:c.2729dup (MSH6) NP_001268423.1:p.Asp911GlyfsTer2
XM_005264271.1:c.3338dup (MSH6) XP_005264328.1:p.Asp1114GlyfsTer2
XM_011532798.1:c.3452dup (MSH6) XP_011531100.1:p.Asp1152GlyfsTer2
XM_011532799.1:c.3338dup (MSH6) XP_011531101.1:p.Asp1114GlyfsTer2
XM_011532800.1:c.3338dup (MSH6) XP_011531102.1:p.Asp1114GlyfsTer2
XM_024452819.1:c.3635dup (MSH6) XP_024308587.1:p.Asp1213GlyfsTer2
XM_024452820.1:c.3452dup (MSH6) XP_024308588.1:p.Asp1152GlyfsTer2
XM_024452821.1:c.3338dup (MSH6) XP_024308589.1:p.Asp1114GlyfsTer2
XM_024452822.1:c.2729dup (MSH6) XP_024308590.1:p.Asp911GlyfsTer2
NM_000179.3:c.3635dup (MSH6) MANE Select NP_000170.1:p.Asp1213GlyfsTer2
NM_001281492.2:c.3245dup (MSH6) NP_001268421.1:p.Asp1083GlyfsTer2
NM_001281493.2:c.2729dup (MSH6) NP_001268422.1:p.Asp911GlyfsTer2
NM_001281494.2:c.2729dup (MSH6) NP_001268423.1:p.Asp911GlyfsTer2