Canonical Allele Identifier: CA16617674

Linked Data

dbSNP Id: rs1064794164

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47800483_47800484del , CM000664.2:g.47800483_47800484del GRCh38
NC_000002.11:g.48027622_48027623del , CM000664.1:g.48027622_48027623del GRCh37
NC_000002.10:g.47881126_47881127del NCBI36
NG_007111.1:g.22337_22338del , LRG_219:g.22337_22338del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.2203_2204del (MSH6) ENSP00000406248.2:p.Gln736GlufsTer11
ENST00000420813.6:c.2203_2204del (MSH6) ENSP00000390382.2:p.Gln736GlufsTer11
ENST00000455383.6:c.2203_2204del (MSH6) ENSP00000397484.2:p.Gln736GlufsTer11
ENST00000700004.2:c.2500_2501del (MSH6) ENSP00000514752.2:p.Gln835GlufsTer11
ENST00000699999.1:n.2584_2585del (MSH6)
ENST00000700000.1:c.1606+894_1606+895del (MSH6) ENSP00000514749.1:n.1606+894_1606+895del
ENST00000700002.1:c.2506_2507del (MSH6) ENSP00000514750.1:p.Gln837GlufsTer11
ENST00000700003.1:c.628-2937_628-2936del (MSH6) ENSP00000514751.1:n.628-2937_628-2936del
ENST00000700004.1:c.1657_1658del (MSH6) ENSP00000514752.1:p.Gln554GlufsTer11
ENST00000234420.11:c.2500_2501del (MSH6) MANE Select ENSP00000234420.5:p.Gln835GlufsTer11
ENST00000540021.6:c.2110_2111del (MSH6) ENSP00000446475.1:p.Gln705GlufsTer11
ENST00000652107.1:c.2203_2204del (MSH6) ENSP00000498629.1:p.Gln736GlufsTer11
ENST00000673637.1:c.2203_2204del (MSH6) ENSP00000501310.1:p.Gln736GlufsTer11
ENST00000234420.9:c.2500_2501del (MSH6) ENSP00000234420.4:p.Gln835GlufsTer11
ENST00000405808.5:c.169+7713_169+7714del (FBXO11) ENSP00000385127.1:n.169+7713_169+7714del
ENST00000434234.5:c.*124+7512_*124+7513del (FBXO11) ENSP00000402692.1:n.*124+7512_*124+7513de...
ENST00000445503.5:c.*1847_*1848del (MSH6) ENSP00000405294.1:n.*1847_*1848del
ENST00000538136.1:c.1594_1595del (MSH6) ENSP00000438580.1:p.Gln533GlufsTer11
ENST00000540021.5:c.2110_2111del (MSH6) ENSP00000446475.1:p.Gln705GlufsTer11
ENST00000614496.4:c.1594_1595del (MSH6) ENSP00000477844.1:p.Gln533GlufsTer11
ENST00000616033.4:c.2497_2498del (MSH6) ENSP00000480261.1:p.Gln834GlufsTer11
ENST00000622629.4:c.-597_-596del (MSH6) ENSP00000482078.1:n.-597_-596del
NM_000179.2:c.2500_2501del , LRG_219t1:c.2500_2501del (MSH6) NP_000170.1:p.Gln835GlufsTer11
NM_001281492.1:c.2110_2111del (MSH6) NP_001268421.1:p.Gln705GlufsTer11
NM_001281493.1:c.1594_1595del (MSH6) NP_001268422.1:p.Gln533GlufsTer11
NM_001281494.1:c.1594_1595del (MSH6) NP_001268423.1:p.Gln533GlufsTer11
XM_005264271.1:c.2203_2204del (MSH6) XP_005264328.1:p.Gln736GlufsTer11
XM_011532798.1:c.2317_2318del (MSH6) XP_011531100.1:p.Gln774GlufsTer11
XM_011532799.1:c.2203_2204del (MSH6) XP_011531101.1:p.Gln736GlufsTer11
XM_011532800.1:c.2203_2204del (MSH6) XP_011531102.1:p.Gln736GlufsTer11
XM_024452819.1:c.2500_2501del (MSH6) XP_024308587.1:p.Gln835GlufsTer11
XM_024452820.1:c.2317_2318del (MSH6) XP_024308588.1:p.Gln774GlufsTer11
XM_024452821.1:c.2203_2204del (MSH6) XP_024308589.1:p.Gln736GlufsTer11
XM_024452822.1:c.1594_1595del (MSH6) XP_024308590.1:p.Gln533GlufsTer11
NM_000179.3:c.2500_2501del (MSH6) MANE Select NP_000170.1:p.Gln835GlufsTer11
NM_001281492.2:c.2110_2111del (MSH6) NP_001268421.1:p.Gln705GlufsTer11
NM_001281493.2:c.1594_1595del (MSH6) NP_001268422.1:p.Gln533GlufsTer11
NM_001281494.2:c.1594_1595del (MSH6) NP_001268423.1:p.Gln533GlufsTer11