Canonical Allele Identifier: CA013228

Linked Data

ClinVar Variation Id: 89405
ClinVar RCV Id: RCV002453382
dbSNP Id: rs267608099

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47804987_47804990del , CM000664.2:g.47804987_47804990del GRCh38
NC_000002.11:g.48032126_48032129del , CM000664.1:g.48032126_48032129del GRCh37
NC_000002.10:g.47885630_47885633del NCBI36
NG_007111.1:g.26841_26844del , LRG_219:g.26841_26844del
NG_008397.1:g.105687_105690del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3219_3222del (MSH6) ENSP00000406248.2:p.Arg1073SerfsTer11
ENST00000420813.6:c.3219_3222del (MSH6) ENSP00000390382.2:p.Arg1073SerfsTer11
ENST00000455383.6:c.3219_3222del (MSH6) ENSP00000397484.2:p.Arg1073SerfsTer11
ENST00000700004.2:c.3173-631_3173-628del (MSH6) ENSP00000514752.2:n.3173-631_3173-628del
ENST00000699999.1:n.3600_3603del (MSH6)
ENST00000700000.1:c.1950_1953del (MSH6) ENSP00000514749.1:p.Arg650SerfsTer11
ENST00000700002.1:c.3522_3525del (MSH6) ENSP00000514750.1:p.Arg1174SerfsTer11
ENST00000700003.1:c.971_974del (MSH6) ENSP00000514751.1:n.971_974del
ENST00000700004.1:c.2330-631_2330-628del (MSH6) ENSP00000514752.1:n.2330-631_2330-628del
ENST00000700005.1:n.2367_2370del (MSH6)
ENST00000700006.1:n.3588_3591del (MSH6)
ENST00000700007.1:n.1521_1524del (MSH6)
ENST00000700008.1:n.1095_1098del (MSH6)
ENST00000700009.1:n.1094_1097del (MSH6)
ENST00000700010.1:n.925_928del (MSH6)
ENST00000700011.1:n.2220_2223del (MSH6)
ENST00000234420.11:c.3516_3519del (MSH6) MANE Select ENSP00000234420.5:p.Arg1172SerfsTer11
ENST00000540021.6:c.3126_3129del (MSH6) ENSP00000446475.1:p.Arg1042SerfsTer11
ENST00000652107.1:c.3219_3222del (MSH6) ENSP00000498629.1:p.Arg1073SerfsTer11
ENST00000673637.1:c.3219_3222del (MSH6) ENSP00000501310.1:p.Arg1073SerfsTer11
ENST00000234420.9:c.3516_3519del (MSH6) ENSP00000234420.4:p.Arg1172SerfsTer11
ENST00000405808.5:c.169+3206_169+3209del (FBXO11) ENSP00000385127.1:n.169+3206_169+3209del
ENST00000434234.5:c.*124+3005_*124+3008del (FBXO11) ENSP00000402692.1:n.*124+3005_*124+3008de...
ENST00000445503.5:c.*2863_*2866del (MSH6) ENSP00000405294.1:n.*2863_*2866del
ENST00000538136.1:c.2610_2613del (MSH6) ENSP00000438580.1:p.Arg870SerfsTer11
ENST00000540021.5:c.3126_3129del (MSH6) ENSP00000446475.1:p.Arg1042SerfsTer11
ENST00000614496.4:c.2610_2613del (MSH6) ENSP00000477844.1:p.Arg870SerfsTer11
ENST00000622629.4:c.420_423del (MSH6) ENSP00000482078.1:p.Arg140SerfsTer11
NM_000179.2:c.3516_3519del , LRG_219t1:c.3516_3519del (MSH6) NP_000170.1:p.Arg1172SerfsTer11
NM_001281492.1:c.3126_3129del (MSH6) NP_001268421.1:p.Arg1042SerfsTer11
NM_001281493.1:c.2610_2613del (MSH6) NP_001268422.1:p.Arg870SerfsTer11
NM_001281494.1:c.2610_2613del (MSH6) NP_001268423.1:p.Arg870SerfsTer11
XM_005264271.1:c.3219_3222del (MSH6) XP_005264328.1:p.Arg1073SerfsTer11
XM_011532798.1:c.3333_3336del (MSH6) XP_011531100.1:p.Arg1111SerfsTer11
XM_011532799.1:c.3219_3222del (MSH6) XP_011531101.1:p.Arg1073SerfsTer11
XM_011532800.1:c.3219_3222del (MSH6) XP_011531102.1:p.Arg1073SerfsTer11
XM_024452819.1:c.3516_3519del (MSH6) XP_024308587.1:p.Arg1172SerfsTer11
XM_024452820.1:c.3333_3336del (MSH6) XP_024308588.1:p.Arg1111SerfsTer11
XM_024452821.1:c.3219_3222del (MSH6) XP_024308589.1:p.Arg1073SerfsTer11
XM_024452822.1:c.2610_2613del (MSH6) XP_024308590.1:p.Arg870SerfsTer11
NM_000179.3:c.3516_3519del (MSH6) MANE Select NP_000170.1:p.Arg1172SerfsTer11
NM_001281492.2:c.3126_3129del (MSH6) NP_001268421.1:p.Arg1042SerfsTer11
NM_001281493.2:c.2610_2613del (MSH6) NP_001268422.1:p.Arg870SerfsTer11
NM_001281494.2:c.2610_2613del (MSH6) NP_001268423.1:p.Arg870SerfsTer11