Canonical Allele Identifier: CA2500377600

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47805663_47805664insTA , CM000664.2:g.47805663_47805664insTA GRCh38
NC_000002.11:g.48032802_48032803insTA , CM000664.1:g.48032802_48032803insTA GRCh37
NC_000002.10:g.47886306_47886307insTA NCBI36
NG_007111.1:g.27517_27518insTA , LRG_219:g.27517_27518insTA
NG_008397.1:g.105012_105013insTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3305_3306insTA (MSH6) ENSP00000406248.2:p.Met1103ThrfsTer15
ENST00000420813.6:c.3305_3306insTA (MSH6) ENSP00000390382.2:p.Met1103ThrfsTer15
ENST00000455383.6:c.3305_3306insTA (MSH6) ENSP00000397484.2:p.Met1103ThrfsTer15
ENST00000700004.2:c.3218_3219insTA (MSH6) ENSP00000514752.2:p.Met1074ThrfsTer15
ENST00000699999.1:n.4276_4277insTA (MSH6)
ENST00000700000.1:c.2036_2037insTA (MSH6) ENSP00000514749.1:p.Met680ThrfsTer15
ENST00000700002.1:c.3608_3609insTA (MSH6) ENSP00000514750.1:p.Met1204ThrfsTer15
ENST00000700003.1:c.1057_1058insTA (MSH6) ENSP00000514751.1:n.1057_1058insTA
ENST00000700004.1:c.2375_2376insTA (MSH6) ENSP00000514752.1:p.Met793ThrfsTer15
ENST00000700005.1:n.2453_2454insTA (MSH6)
ENST00000700006.1:n.4264_4265insTA (MSH6)
ENST00000700007.1:n.2197_2198insTA (MSH6)
ENST00000700008.1:n.1771_1772insTA (MSH6)
ENST00000700009.1:n.1770_1771insTA (MSH6)
ENST00000700010.1:n.1011_1012insTA (MSH6)
ENST00000700011.1:n.2896_2897insTA (MSH6)
ENST00000234420.11:c.3602_3603insTA (MSH6) MANE Select ENSP00000234420.5:p.Met1202ThrfsTer15
ENST00000540021.6:c.3212_3213insTA (MSH6) ENSP00000446475.1:p.Met1072ThrfsTer15
ENST00000652107.1:c.3305_3306insTA (MSH6) ENSP00000498629.1:p.Met1103ThrfsTer15
ENST00000673637.1:c.3305_3306insTA (MSH6) ENSP00000501310.1:p.Met1103ThrfsTer15
ENST00000234420.9:c.3602_3603insTA (MSH6) ENSP00000234420.4:p.Met1202ThrfsTer15
ENST00000405808.5:c.169+2531_169+2532insTA (FBXO11) ENSP00000385127.1:n.169+2531_169+2532insTA
ENST00000434234.5:c.*124+2330_*124+2331insTA (FBXO11) ENSP00000402692.1:n.*124+2330_*124+2331insTA
ENST00000445503.5:c.*2949_*2950insTA (MSH6) ENSP00000405294.1:n.*2949_*2950insTA
ENST00000538136.1:c.2696_2697insTA (MSH6) ENSP00000438580.1:p.Met900ThrfsTer15
ENST00000540021.5:c.3212_3213insTA (MSH6) ENSP00000446475.1:p.Met1072ThrfsTer15
ENST00000614496.4:c.2696_2697insTA (MSH6) ENSP00000477844.1:p.Met900ThrfsTer15
ENST00000622629.4:c.506_507insTA (MSH6) ENSP00000482078.1:p.Met170ThrfsTer15
NM_000179.2:c.3602_3603insTA , LRG_219t1:c.3602_3603insTA (MSH6) NP_000170.1:p.Met1202ThrfsTer15
NM_001281492.1:c.3212_3213insTA (MSH6) NP_001268421.1:p.Met1072ThrfsTer15
NM_001281493.1:c.2696_2697insTA (MSH6) NP_001268422.1:p.Met900ThrfsTer15
NM_001281494.1:c.2696_2697insTA (MSH6) NP_001268423.1:p.Met900ThrfsTer15
XM_005264271.1:c.3305_3306insTA (MSH6) XP_005264328.1:p.Met1103ThrfsTer15
XM_011532798.1:c.3419_3420insTA (MSH6) XP_011531100.1:p.Met1141ThrfsTer15
XM_011532799.1:c.3305_3306insTA (MSH6) XP_011531101.1:p.Met1103ThrfsTer15
XM_011532800.1:c.3305_3306insTA (MSH6) XP_011531102.1:p.Met1103ThrfsTer15
XM_024452819.1:c.3602_3603insTA (MSH6) XP_024308587.1:p.Met1202ThrfsTer15
XM_024452820.1:c.3419_3420insTA (MSH6) XP_024308588.1:p.Met1141ThrfsTer15
XM_024452821.1:c.3305_3306insTA (MSH6) XP_024308589.1:p.Met1103ThrfsTer15
XM_024452822.1:c.2696_2697insTA (MSH6) XP_024308590.1:p.Met900ThrfsTer15
NM_000179.3:c.3602_3603insTA (MSH6) MANE Select NP_000170.1:p.Met1202ThrfsTer15
NM_001281492.2:c.3212_3213insTA (MSH6) NP_001268421.1:p.Met1072ThrfsTer15
NM_001281493.2:c.2696_2697insTA (MSH6) NP_001268422.1:p.Met900ThrfsTer15
NM_001281494.2:c.2696_2697insTA (MSH6) NP_001268423.1:p.Met900ThrfsTer15