Canonical Allele Identifier: CA2496054032

Linked Data

dbSNP Id: rs1670082979

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806436_47806439dup , CM000664.2:g.47806436_47806439dup GRCh38
NC_000002.11:g.48033575_48033578dup , CM000664.1:g.48033575_48033578dup GRCh37
NC_000002.10:g.47887079_47887082dup NCBI36
NG_007111.1:g.28290_28293dup , LRG_219:g.28290_28293dup
NG_008397.1:g.104238_104241dup

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3505-16_3505-13dup (MSH6) ENSP00000406248.2:n.3505-16_3505-13dup
ENST00000420813.6:c.3505-16_3505-13dup (MSH6) ENSP00000390382.2:n.3505-16_3505-13dup
ENST00000455383.6:c.3505-16_3505-13dup (MSH6) ENSP00000397484.2:n.3505-16_3505-13dup
ENST00000700004.2:c.3418-16_3418-13dup (MSH6) ENSP00000514752.2:n.3418-16_3418-13dup
ENST00000699999.1:n.4476-16_4476-13dup (MSH6)
ENST00000700000.1:c.2236-16_2236-13dup (MSH6) ENSP00000514749.1:n.2236-16_2236-13dup
ENST00000700002.1:c.3808-16_3808-13dup (MSH6) ENSP00000514750.1:n.3808-16_3808-13dup
ENST00000700003.1:c.1257-16_1257-13dup (MSH6) ENSP00000514751.1:n.1257-16_1257-13dup
ENST00000700004.1:c.2575-16_2575-13dup (MSH6) ENSP00000514752.1:n.2575-16_2575-13dup
ENST00000700005.1:n.2653-16_2653-13dup (MSH6)
ENST00000700006.1:n.4960-16_4960-13dup (MSH6)
ENST00000700007.1:n.2397-16_2397-13dup (MSH6)
ENST00000700008.1:n.2048_2051dup (MSH6)
ENST00000700009.1:n.2466-16_2466-13dup (MSH6)
ENST00000700010.1:n.1211-16_1211-13dup (MSH6)
ENST00000700011.1:n.3096-16_3096-13dup (MSH6)
ENST00000682451.1:n.4310_4313dup (FBXO11)
ENST00000684712.1:n.4572_4575dup (FBXO11)
ENST00000234420.11:c.3802-16_3802-13dup (MSH6) MANE Select ENSP00000234420.5:n.3802-16_3802-13dup
ENST00000540021.6:c.3412-16_3412-13dup (MSH6) ENSP00000446475.1:n.3412-16_3412-13dup
ENST00000652107.1:c.3505-16_3505-13dup (MSH6) ENSP00000498629.1:n.3505-16_3505-13dup
ENST00000673637.1:c.3505-16_3505-13dup (MSH6) ENSP00000501310.1:n.3505-16_3505-13dup
ENST00000234420.9:c.3802-16_3802-13dup (MSH6) ENSP00000234420.4:n.3802-16_3802-13dup
ENST00000405808.5:c.169+1757_169+1760dup (FBXO11) ENSP00000385127.1:n.169+1757_169+1760dup
ENST00000434234.5:c.*124+1556_*124+1559dup (FBXO11) ENSP00000402692.1:n.*124+1556_*124+1559du...
ENST00000445503.5:c.*3149-16_*3149-13dup (MSH6) ENSP00000405294.1:n.*3149-16_*3149-13dup
ENST00000538136.1:c.2896-16_2896-13dup (MSH6) ENSP00000438580.1:n.2896-16_2896-13dup
ENST00000540021.5:c.3412-16_3412-13dup (MSH6) ENSP00000446475.1:n.3412-16_3412-13dup
ENST00000614496.4:c.2896-16_2896-13dup (MSH6) ENSP00000477844.1:n.2896-16_2896-13dup
ENST00000622629.4:c.703-16_703-13dup (MSH6) ENSP00000482078.1:n.703-16_703-13dup
NM_000179.2:c.3802-16_3802-13dup , LRG_219t1:c.3802-16_3802-13dup (MSH6) NP_000170.1:n.3802-16_3802-13dup
NM_001281492.1:c.3412-16_3412-13dup (MSH6) NP_001268421.1:n.3412-16_3412-13dup
NM_001281493.1:c.2896-16_2896-13dup (MSH6) NP_001268422.1:n.2896-16_2896-13dup
NM_001281494.1:c.2896-16_2896-13dup (MSH6) NP_001268423.1:n.2896-16_2896-13dup
XM_005264271.1:c.3505-16_3505-13dup (MSH6) XP_005264328.1:n.3505-16_3505-13dup
XM_011532798.1:c.3619-16_3619-13dup (MSH6) XP_011531100.1:n.3619-16_3619-13dup
XM_011532799.1:c.3505-16_3505-13dup (MSH6) XP_011531101.1:n.3505-16_3505-13dup
XM_011532800.1:c.3505-16_3505-13dup (MSH6) XP_011531102.1:n.3505-16_3505-13dup
XM_024452819.1:c.3879_3882dup (MSH6) XP_024308587.1:p.Phe1295IlefsTer5
XM_024452820.1:c.3696_3699dup (MSH6) XP_024308588.1:p.Phe1234IlefsTer5
XM_024452821.1:c.3582_3585dup (MSH6) XP_024308589.1:p.Phe1196IlefsTer5
XM_024452822.1:c.2973_2976dup (MSH6) XP_024308590.1:p.Phe993IlefsTer5
NM_000179.3:c.3802-16_3802-13dup (MSH6) MANE Select NP_000170.1:n.3802-16_3802-13dup
NM_001281492.2:c.3412-16_3412-13dup (MSH6) NP_001268421.1:n.3412-16_3412-13dup
NM_001281493.2:c.2896-16_2896-13dup (MSH6) NP_001268422.1:n.2896-16_2896-13dup
NM_001281494.2:c.2896-16_2896-13dup (MSH6) NP_001268423.1:n.2896-16_2896-13dup