Canonical Allele Identifier: CA1139771101

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47805660_47805661dup , CM000664.2:g.47805660_47805661dup GRCh38
NC_000002.11:g.48032799_48032800dup , CM000664.1:g.48032799_48032800dup GRCh37
NC_000002.10:g.47886303_47886304dup NCBI36
NG_007111.1:g.27514_27515dup , LRG_219:g.27514_27515dup
NG_008397.1:g.105016_105017dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3302_3303dup (MSH6) ENSP00000406248.2:p.Leu1102TyrfsTer16
ENST00000420813.6:c.3302_3303dup (MSH6) ENSP00000390382.2:p.Leu1102TyrfsTer16
ENST00000455383.6:c.3302_3303dup (MSH6) ENSP00000397484.2:p.Leu1102TyrfsTer16
ENST00000700004.2:c.3215_3216dup (MSH6) ENSP00000514752.2:p.Leu1073TyrfsTer16
ENST00000699999.1:n.4273_4274dup (MSH6)
ENST00000700000.1:c.2033_2034dup (MSH6) ENSP00000514749.1:p.Leu679TyrfsTer16
ENST00000700002.1:c.3605_3606dup (MSH6) ENSP00000514750.1:p.Leu1203TyrfsTer16
ENST00000700003.1:c.1054_1055dup (MSH6) ENSP00000514751.1:n.1054_1055dup
ENST00000700004.1:c.2372_2373dup (MSH6) ENSP00000514752.1:p.Leu792TyrfsTer16
ENST00000700005.1:n.2450_2451dup (MSH6)
ENST00000700006.1:n.4261_4262dup (MSH6)
ENST00000700007.1:n.2194_2195dup (MSH6)
ENST00000700008.1:n.1768_1769dup (MSH6)
ENST00000700009.1:n.1767_1768dup (MSH6)
ENST00000700010.1:n.1008_1009dup (MSH6)
ENST00000700011.1:n.2893_2894dup (MSH6)
ENST00000234420.11:c.3599_3600dup (MSH6) MANE Select ENSP00000234420.5:p.Leu1201TyrfsTer16
ENST00000540021.6:c.3209_3210dup (MSH6) ENSP00000446475.1:p.Leu1071TyrfsTer16
ENST00000652107.1:c.3302_3303dup (MSH6) ENSP00000498629.1:p.Leu1102TyrfsTer16
ENST00000673637.1:c.3302_3303dup (MSH6) ENSP00000501310.1:p.Leu1102TyrfsTer16
ENST00000234420.9:c.3599_3600dup (MSH6) ENSP00000234420.4:p.Leu1201TyrfsTer16
ENST00000405808.5:c.169+2535_169+2536dup (FBXO11) ENSP00000385127.1:n.169+2535_169+2536dup
ENST00000434234.5:c.*124+2334_*124+2335dup (FBXO11) ENSP00000402692.1:n.*124+2334_*124+2335dup
ENST00000445503.5:c.*2946_*2947dup (MSH6) ENSP00000405294.1:n.*2946_*2947dup
ENST00000538136.1:c.2693_2694dup (MSH6) ENSP00000438580.1:p.Leu899TyrfsTer16
ENST00000540021.5:c.3209_3210dup (MSH6) ENSP00000446475.1:p.Leu1071TyrfsTer16
ENST00000614496.4:c.2693_2694dup (MSH6) ENSP00000477844.1:p.Leu899TyrfsTer16
ENST00000622629.4:c.503_504dup (MSH6) ENSP00000482078.1:p.Leu169TyrfsTer16
NM_000179.2:c.3599_3600dup , LRG_219t1:c.3599_3600dup (MSH6) NP_000170.1:p.Leu1201TyrfsTer16
NM_001281492.1:c.3209_3210dup (MSH6) NP_001268421.1:p.Leu1071TyrfsTer16
NM_001281493.1:c.2693_2694dup (MSH6) NP_001268422.1:p.Leu899TyrfsTer16
NM_001281494.1:c.2693_2694dup (MSH6) NP_001268423.1:p.Leu899TyrfsTer16
XM_005264271.1:c.3302_3303dup (MSH6) XP_005264328.1:p.Leu1102TyrfsTer16
XM_011532798.1:c.3416_3417dup (MSH6) XP_011531100.1:p.Leu1140TyrfsTer16
XM_011532799.1:c.3302_3303dup (MSH6) XP_011531101.1:p.Leu1102TyrfsTer16
XM_011532800.1:c.3302_3303dup (MSH6) XP_011531102.1:p.Leu1102TyrfsTer16
XM_024452819.1:c.3599_3600dup (MSH6) XP_024308587.1:p.Leu1201TyrfsTer16
XM_024452820.1:c.3416_3417dup (MSH6) XP_024308588.1:p.Leu1140TyrfsTer16
XM_024452821.1:c.3302_3303dup (MSH6) XP_024308589.1:p.Leu1102TyrfsTer16
XM_024452822.1:c.2693_2694dup (MSH6) XP_024308590.1:p.Leu899TyrfsTer16
NM_000179.3:c.3599_3600dup (MSH6) MANE Select NP_000170.1:p.Leu1201TyrfsTer16
NM_001281492.2:c.3209_3210dup (MSH6) NP_001268421.1:p.Leu1071TyrfsTer16
NM_001281493.2:c.2693_2694dup (MSH6) NP_001268422.1:p.Leu899TyrfsTer16
NM_001281494.2:c.2693_2694dup (MSH6) NP_001268423.1:p.Leu899TyrfsTer16