Canonical Allele Identifier: CA2496054287

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806572C= , CM000664.2:g.47806572C= GRCh38
NC_000002.11:g.48033711C= , CM000664.1:g.48033711C= GRCh37
NC_000002.10:g.47887215C= NCBI36
NG_007111.1:g.28426C= , LRG_219:g.28426C=
NG_008397.1:g.104104G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3625C= (MSH6) ENSP00000406248.2:p.Leu1209=
ENST00000420813.6:c.3625C= (MSH6) ENSP00000390382.2:p.Leu1209=
ENST00000455383.6:c.3625C= (MSH6) ENSP00000397484.2:p.Leu1209=
ENST00000700004.2:c.3538C= (MSH6) ENSP00000514752.2:p.Leu1180=
ENST00000699999.1:n.4596C= (MSH6)
ENST00000700000.1:c.2356C= (MSH6) ENSP00000514749.1:p.Leu786=
ENST00000700002.1:c.3928C= (MSH6) ENSP00000514750.1:p.Leu1310=
ENST00000700003.1:c.1377C= (MSH6) ENSP00000514751.1:n.1377C=
ENST00000700004.1:c.2695C= (MSH6) ENSP00000514752.1:p.Leu899=
ENST00000700005.1:n.2773C= (MSH6)
ENST00000700006.1:n.5080C= (MSH6)
ENST00000700007.1:n.2517C= (MSH6)
ENST00000700008.1:n.2184C= (MSH6)
ENST00000700009.1:n.2586C= (MSH6)
ENST00000700010.1:n.1331C= (MSH6)
ENST00000700011.1:n.3216C= (MSH6)
ENST00000682451.1:n.4176G= (FBXO11)
ENST00000684712.1:n.4438G= (FBXO11)
ENST00000234420.11:c.3922C= (MSH6) MANE Select ENSP00000234420.5:p.Leu1308=
ENST00000540021.6:c.3532C= (MSH6) ENSP00000446475.1:p.Leu1178=
ENST00000652107.1:c.3625C= (MSH6) ENSP00000498629.1:p.Leu1209=
ENST00000673637.1:c.3625C= (MSH6) ENSP00000501310.1:p.Leu1209=
ENST00000234420.9:c.3922C= (MSH6) ENSP00000234420.4:p.Leu1308=
ENST00000405808.5:c.169+1623G= (FBXO11) ENSP00000385127.1:n.169+1623G=
ENST00000434234.5:c.*124+1422G= (FBXO11) ENSP00000402692.1:n.*124+1422G=
ENST00000445503.5:c.*3269C= (MSH6) ENSP00000405294.1:n.*3269C=
ENST00000538136.1:c.3016C= (MSH6) ENSP00000438580.1:p.Leu1006=
ENST00000540021.5:c.3532C= (MSH6) ENSP00000446475.1:p.Leu1178=
ENST00000614496.4:c.3016C= (MSH6) ENSP00000477844.1:p.Leu1006=
ENST00000622629.4:c.823C= (MSH6) ENSP00000482078.1:p.Leu275=
NM_000179.2:c.3922C= , LRG_219t1:c.3922C= (MSH6) NP_000170.1:p.Leu1308=
NM_001281492.1:c.3532C= (MSH6) NP_001268421.1:p.Leu1178=
NM_001281493.1:c.3016C= (MSH6) NP_001268422.1:p.Leu1006=
NM_001281494.1:c.3016C= (MSH6) NP_001268423.1:p.Leu1006=
XM_005264271.1:c.3625C= (MSH6) XP_005264328.1:p.Leu1209=
XM_011532798.1:c.3739C= (MSH6) XP_011531100.1:p.Leu1247=
XM_011532799.1:c.3625C= (MSH6) XP_011531101.1:p.Leu1209=
XM_011532800.1:c.3625C= (MSH6) XP_011531102.1:p.Leu1209=
XM_024452819.1:c.4015C= (MSH6) XP_024308587.1:p.Leu1339=
XM_024452820.1:c.3832C= (MSH6) XP_024308588.1:p.Leu1278=
XM_024452821.1:c.3718C= (MSH6) XP_024308589.1:p.Leu1240=
XM_024452822.1:c.3109C= (MSH6) XP_024308590.1:p.Leu1037=
NM_000179.3:c.3922C= (MSH6) MANE Select NP_000170.1:p.Leu1308=
NM_001281492.2:c.3532C= (MSH6) NP_001268421.1:p.Leu1178=
NM_001281493.2:c.3016C= (MSH6) NP_001268422.1:p.Leu1006=
NM_001281494.2:c.3016C= (MSH6) NP_001268423.1:p.Leu1006=