Canonical Allele Identifier: CA2695200581

Linked Data

ClinVar Variation Id: 2673781
ClinVar RCV Id: RCV003450418

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47805663_47805675del , CM000664.2:g.47805663_47805675del GRCh38
NC_000002.11:g.48032802_48032814del , CM000664.1:g.48032802_48032814del GRCh37
NC_000002.10:g.47886306_47886318del NCBI36
NG_007111.1:g.27517_27529del , LRG_219:g.27517_27529del
NG_008397.1:g.105003_105015del

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3305_3317del (MSH6) ENSP00000406248.2:p.Leu1102GlnfsTer11
ENST00000420813.6:c.3305_3317del (MSH6) ENSP00000390382.2:p.Leu1102GlnfsTer11
ENST00000455383.6:c.3305_3317del (MSH6) ENSP00000397484.2:p.Leu1102GlnfsTer11
ENST00000700004.2:c.3218_3230del (MSH6) ENSP00000514752.2:p.Leu1073GlnfsTer11
ENST00000699999.1:n.4276_4288del (MSH6)
ENST00000700000.1:c.2036_2048del (MSH6) ENSP00000514749.1:p.Leu679GlnfsTer11
ENST00000700002.1:c.3608_3620del (MSH6) ENSP00000514750.1:p.Leu1203GlnfsTer11
ENST00000700003.1:c.1057_1069del (MSH6) ENSP00000514751.1:n.1057_1069del
ENST00000700004.1:c.2375_2387del (MSH6) ENSP00000514752.1:p.Leu792GlnfsTer11
ENST00000700005.1:n.2453_2465del (MSH6)
ENST00000700006.1:n.4264_4276del (MSH6)
ENST00000700007.1:n.2197_2209del (MSH6)
ENST00000700008.1:n.1771_1783del (MSH6)
ENST00000700009.1:n.1770_1782del (MSH6)
ENST00000700010.1:n.1011_1023del (MSH6)
ENST00000700011.1:n.2896_2908del (MSH6)
ENST00000234420.11:c.3602_3614del (MSH6) MANE Select ENSP00000234420.5:p.Leu1201GlnfsTer11
ENST00000540021.6:c.3212_3224del (MSH6) ENSP00000446475.1:p.Leu1071GlnfsTer11
ENST00000652107.1:c.3305_3317del (MSH6) ENSP00000498629.1:p.Leu1102GlnfsTer11
ENST00000673637.1:c.3305_3317del (MSH6) ENSP00000501310.1:p.Leu1102GlnfsTer11
ENST00000234420.9:c.3602_3614del (MSH6) ENSP00000234420.4:p.Leu1201GlnfsTer11
ENST00000405808.5:c.169+2522_169+2534del (FBXO11) ENSP00000385127.1:n.169+2522_169+2534del
ENST00000434234.5:c.*124+2321_*124+2333del (FBXO11) ENSP00000402692.1:n.*124+2321_*124+2333del
ENST00000445503.5:c.*2949_*2961del (MSH6) ENSP00000405294.1:n.*2949_*2961del
ENST00000538136.1:c.2696_2708del (MSH6) ENSP00000438580.1:p.Leu899GlnfsTer11
ENST00000540021.5:c.3212_3224del (MSH6) ENSP00000446475.1:p.Leu1071GlnfsTer11
ENST00000614496.4:c.2696_2708del (MSH6) ENSP00000477844.1:p.Leu899GlnfsTer11
ENST00000622629.4:c.506_518del (MSH6) ENSP00000482078.1:p.Leu169GlnfsTer11
NM_000179.2:c.3602_3614del , LRG_219t1:c.3602_3614del (MSH6) NP_000170.1:p.Leu1201GlnfsTer11
NM_001281492.1:c.3212_3224del (MSH6) NP_001268421.1:p.Leu1071GlnfsTer11
NM_001281493.1:c.2696_2708del (MSH6) NP_001268422.1:p.Leu899GlnfsTer11
NM_001281494.1:c.2696_2708del (MSH6) NP_001268423.1:p.Leu899GlnfsTer11
XM_005264271.1:c.3305_3317del (MSH6) XP_005264328.1:p.Leu1102GlnfsTer11
XM_011532798.1:c.3419_3431del (MSH6) XP_011531100.1:p.Leu1140GlnfsTer11
XM_011532799.1:c.3305_3317del (MSH6) XP_011531101.1:p.Leu1102GlnfsTer11
XM_011532800.1:c.3305_3317del (MSH6) XP_011531102.1:p.Leu1102GlnfsTer11
XM_024452819.1:c.3602_3614del (MSH6) XP_024308587.1:p.Leu1201GlnfsTer11
XM_024452820.1:c.3419_3431del (MSH6) XP_024308588.1:p.Leu1140GlnfsTer11
XM_024452821.1:c.3305_3317del (MSH6) XP_024308589.1:p.Leu1102GlnfsTer11
XM_024452822.1:c.2696_2708del (MSH6) XP_024308590.1:p.Leu899GlnfsTer11
NM_000179.3:c.3602_3614del (MSH6) MANE Select NP_000170.1:p.Leu1201GlnfsTer11
NM_001281492.2:c.3212_3224del (MSH6) NP_001268421.1:p.Leu1071GlnfsTer11
NM_001281493.2:c.2696_2708del (MSH6) NP_001268422.1:p.Leu899GlnfsTer11
NM_001281494.2:c.2696_2708del (MSH6) NP_001268423.1:p.Leu899GlnfsTer11