Canonical Allele Identifier: CA014616

Linked Data

ClinVar Variation Id: 89478
ClinVar RCV Id: RCV000074946
dbSNP Id: rs267608130

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806537_47806543del , CM000664.2:g.47806537_47806543del GRCh38
NC_000002.11:g.48033676_48033682del , CM000664.1:g.48033676_48033682del GRCh37
NC_000002.10:g.47887180_47887186del NCBI36
NG_007111.1:g.28391_28397del , LRG_219:g.28391_28397del
NG_008397.1:g.104136_104142del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3590_3596del (MSH6) ENSP00000406248.2:p.Lys1197MetfsTer29
ENST00000420813.6:c.3590_3596del (MSH6) ENSP00000390382.2:p.Lys1197MetfsTer29
ENST00000455383.6:c.3590_3596del (MSH6) ENSP00000397484.2:p.Lys1197MetfsTer29
ENST00000700004.2:c.3503_3509del (MSH6) ENSP00000514752.2:p.Lys1168MetfsTer29
ENST00000699999.1:n.4561_4567del (MSH6)
ENST00000700000.1:c.2321_2327del (MSH6) ENSP00000514749.1:p.Lys774MetfsTer29
ENST00000700002.1:c.3893_3899del (MSH6) ENSP00000514750.1:p.Lys1298MetfsTer29
ENST00000700003.1:c.1342_1348del (MSH6) ENSP00000514751.1:n.1342_1348del
ENST00000700004.1:c.2660_2666del (MSH6) ENSP00000514752.1:p.Lys887MetfsTer29
ENST00000700005.1:n.2738_2744del (MSH6)
ENST00000700006.1:n.5045_5051del (MSH6)
ENST00000700007.1:n.2482_2488del (MSH6)
ENST00000700008.1:n.2149_2155del (MSH6)
ENST00000700009.1:n.2551_2557del (MSH6)
ENST00000700010.1:n.1296_1302del (MSH6)
ENST00000700011.1:n.3181_3187del (MSH6)
ENST00000682451.1:n.4208_4214del (FBXO11)
ENST00000684712.1:n.4470_4476del (FBXO11)
ENST00000234420.11:c.3887_3893del (MSH6) MANE Select ENSP00000234420.5:p.Lys1296MetfsTer29
ENST00000540021.6:c.3497_3503del (MSH6) ENSP00000446475.1:p.Lys1166MetfsTer29
ENST00000652107.1:c.3590_3596del (MSH6) ENSP00000498629.1:p.Lys1197MetfsTer29
ENST00000673637.1:c.3590_3596del (MSH6) ENSP00000501310.1:p.Lys1197MetfsTer29
ENST00000234420.9:c.3887_3893del (MSH6) ENSP00000234420.4:p.Lys1296MetfsTer29
ENST00000405808.5:c.169+1655_169+1661del (FBXO11) ENSP00000385127.1:n.169+1655_169+1661del
ENST00000434234.5:c.*124+1454_*124+1460del (FBXO11) ENSP00000402692.1:n.*124+1454_*124+1460de...
ENST00000445503.5:c.*3234_*3240del (MSH6) ENSP00000405294.1:n.*3234_*3240del
ENST00000538136.1:c.2981_2987del (MSH6) ENSP00000438580.1:p.Lys994MetfsTer29
ENST00000540021.5:c.3497_3503del (MSH6) ENSP00000446475.1:p.Lys1166MetfsTer29
ENST00000614496.4:c.2981_2987del (MSH6) ENSP00000477844.1:p.Lys994MetfsTer29
ENST00000622629.4:c.788_794del (MSH6) ENSP00000482078.1:p.Lys263MetfsTer29
NM_000179.2:c.3887_3893del , LRG_219t1:c.3887_3893del (MSH6) NP_000170.1:p.Lys1296MetfsTer29
NM_001281492.1:c.3497_3503del (MSH6) NP_001268421.1:p.Lys1166MetfsTer29
NM_001281493.1:c.2981_2987del (MSH6) NP_001268422.1:p.Lys994MetfsTer29
NM_001281494.1:c.2981_2987del (MSH6) NP_001268423.1:p.Lys994MetfsTer29
XM_005264271.1:c.3590_3596del (MSH6) XP_005264328.1:p.Lys1197MetfsTer29
XM_011532798.1:c.3704_3710del (MSH6) XP_011531100.1:p.Lys1235MetfsTer29
XM_011532799.1:c.3590_3596del (MSH6) XP_011531101.1:p.Lys1197MetfsTer29
XM_011532800.1:c.3590_3596del (MSH6) XP_011531102.1:p.Lys1197MetfsTer29
XM_024452819.1:c.3980_3986del (MSH6) XP_024308587.1:p.Lys1327MetfsTer29
XM_024452820.1:c.3797_3803del (MSH6) XP_024308588.1:p.Lys1266MetfsTer29
XM_024452821.1:c.3683_3689del (MSH6) XP_024308589.1:p.Lys1228MetfsTer29
XM_024452822.1:c.3074_3080del (MSH6) XP_024308590.1:p.Lys1025MetfsTer29
NM_000179.3:c.3887_3893del (MSH6) MANE Select NP_000170.1:p.Lys1296MetfsTer29
NM_001281492.2:c.3497_3503del (MSH6) NP_001268421.1:p.Lys1166MetfsTer29
NM_001281493.2:c.2981_2987del (MSH6) NP_001268422.1:p.Lys994MetfsTer29
NM_001281494.2:c.2981_2987del (MSH6) NP_001268423.1:p.Lys994MetfsTer29