Canonical Allele Identifier: CA16617714

Linked Data

ClinVar Variation Id: 419474
dbSNP Id: rs1064793895

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806547_47806581dup , CM000664.2:g.47806547_47806581dup GRCh38
NC_000002.11:g.48033686_48033720dup , CM000664.1:g.48033686_48033720dup GRCh37
NC_000002.10:g.47887190_47887224dup NCBI36
NG_007111.1:g.28401_28435dup , LRG_219:g.28401_28435dup
NG_008397.1:g.104097_104131dup

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3600_3634dup (MSH6) ENSP00000406248.2:p.Glu1212AlafsTer28
ENST00000420813.6:c.3600_3634dup (MSH6) ENSP00000390382.2:p.Glu1212AlafsTer28
ENST00000455383.6:c.3600_3634dup (MSH6) ENSP00000397484.2:p.Glu1212AlafsTer28
ENST00000700004.2:c.3513_3547dup (MSH6) ENSP00000514752.2:p.Glu1183AlafsTer28
ENST00000699999.1:n.4571_4605dup (MSH6)
ENST00000700000.1:c.2331_2365dup (MSH6) ENSP00000514749.1:p.Glu789AlafsTer28
ENST00000700002.1:c.3903_3937dup (MSH6) ENSP00000514750.1:p.Glu1313AlafsTer28
ENST00000700003.1:c.1352_1386dup (MSH6) ENSP00000514751.1:n.1352_1386dup
ENST00000700004.1:c.2670_2704dup (MSH6) ENSP00000514752.1:p.Glu902AlafsTer28
ENST00000700005.1:n.2748_2782dup (MSH6)
ENST00000700006.1:n.5055_5089dup (MSH6)
ENST00000700007.1:n.2492_2526dup (MSH6)
ENST00000700008.1:n.2159_2193dup (MSH6)
ENST00000700009.1:n.2561_2595dup (MSH6)
ENST00000700010.1:n.1306_1340dup (MSH6)
ENST00000700011.1:n.3191_3225dup (MSH6)
ENST00000682451.1:n.4169_4203dup (FBXO11)
ENST00000684712.1:n.4431_4465dup (FBXO11)
ENST00000234420.11:c.3897_3931dup (MSH6) MANE Select ENSP00000234420.5:p.Glu1311AlafsTer28
ENST00000540021.6:c.3507_3541dup (MSH6) ENSP00000446475.1:p.Glu1181AlafsTer28
ENST00000652107.1:c.3600_3634dup (MSH6) ENSP00000498629.1:p.Glu1212AlafsTer28
ENST00000673637.1:c.3600_3634dup (MSH6) ENSP00000501310.1:p.Glu1212AlafsTer28
ENST00000234420.9:c.3897_3931dup (MSH6) ENSP00000234420.4:p.Glu1311AlafsTer28
ENST00000405808.5:c.169+1616_169+1650dup (FBXO11) ENSP00000385127.1:n.169+1616_169+1650dup
ENST00000434234.5:c.*124+1415_*124+1449dup (FBXO11) ENSP00000402692.1:n.*124+1415_*124+1449du...
ENST00000445503.5:c.*3244_*3278dup (MSH6) ENSP00000405294.1:n.*3244_*3278dup
ENST00000538136.1:c.2991_3025dup (MSH6) ENSP00000438580.1:p.Glu1009AlafsTer28
ENST00000540021.5:c.3507_3541dup (MSH6) ENSP00000446475.1:p.Glu1181AlafsTer28
ENST00000614496.4:c.2991_3025dup (MSH6) ENSP00000477844.1:p.Glu1009AlafsTer28
ENST00000622629.4:c.798_832dup (MSH6) ENSP00000482078.1:p.Glu278AlafsTer28
NM_000179.2:c.3897_3931dup , LRG_219t1:c.3897_3931dup (MSH6) NP_000170.1:p.Glu1311AlafsTer28
NM_001281492.1:c.3507_3541dup (MSH6) NP_001268421.1:p.Glu1181AlafsTer28
NM_001281493.1:c.2991_3025dup (MSH6) NP_001268422.1:p.Glu1009AlafsTer28
NM_001281494.1:c.2991_3025dup (MSH6) NP_001268423.1:p.Glu1009AlafsTer28
XM_005264271.1:c.3600_3634dup (MSH6) XP_005264328.1:p.Glu1212AlafsTer28
XM_011532798.1:c.3714_3748dup (MSH6) XP_011531100.1:p.Glu1250AlafsTer28
XM_011532799.1:c.3600_3634dup (MSH6) XP_011531101.1:p.Glu1212AlafsTer28
XM_011532800.1:c.3600_3634dup (MSH6) XP_011531102.1:p.Glu1212AlafsTer28
XM_024452819.1:c.3990_4024dup (MSH6) XP_024308587.1:p.Glu1342AlafsTer28
XM_024452820.1:c.3807_3841dup (MSH6) XP_024308588.1:p.Glu1281AlafsTer28
XM_024452821.1:c.3693_3727dup (MSH6) XP_024308589.1:p.Glu1243AlafsTer28
XM_024452822.1:c.3084_3118dup (MSH6) XP_024308590.1:p.Glu1040AlafsTer28
NM_000179.3:c.3897_3931dup (MSH6) MANE Select NP_000170.1:p.Glu1311AlafsTer28
NM_001281492.2:c.3507_3541dup (MSH6) NP_001268421.1:p.Glu1181AlafsTer28
NM_001281493.2:c.2991_3025dup (MSH6) NP_001268422.1:p.Glu1009AlafsTer28
NM_001281494.2:c.2991_3025dup (MSH6) NP_001268423.1:p.Glu1009AlafsTer28