Canonical Allele Identifier: CA913188008

Linked Data

ClinVar Variation Id: 628522
ClinVar RCV Id: RCV000773003
dbSNP Id: rs1558391045

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47805723_47805789del , CM000664.2:g.47805723_47805789del GRCh38
NC_000002.11:g.48032862_48032928del , CM000664.1:g.48032862_48032928del GRCh37
NC_000002.10:g.47886366_47886432del NCBI36
NG_007111.1:g.27577_27643del , LRG_219:g.27577_27643del
NG_008397.1:g.104887_104953del

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3349+16_3349+82del (MSH6) ENSP00000406248.2:n.3349+16_3349+82del
ENST00000420813.6:c.3349+16_3349+82del (MSH6) ENSP00000390382.2:n.3349+16_3349+82del
ENST00000455383.6:c.3349+16_3349+82del (MSH6) ENSP00000397484.2:n.3349+16_3349+82del
ENST00000700004.2:c.3262+16_3262+82del (MSH6) ENSP00000514752.2:n.3262+16_3262+82del
ENST00000699999.1:n.4320+16_4320+82del (MSH6)
ENST00000700000.1:c.2080+16_2080+82del (MSH6) ENSP00000514749.1:n.2080+16_2080+82del
ENST00000700002.1:c.3652+16_3652+82del (MSH6) ENSP00000514750.1:n.3652+16_3652+82del
ENST00000700003.1:c.1101+16_1101+82del (MSH6) ENSP00000514751.1:n.1101+16_1101+82del
ENST00000700004.1:c.2419+16_2419+82del (MSH6) ENSP00000514752.1:n.2419+16_2419+82del
ENST00000700005.1:n.2497+16_2497+82del (MSH6)
ENST00000700006.1:n.4324_4390del (MSH6)
ENST00000700007.1:n.2241+16_2241+82del (MSH6)
ENST00000700008.1:n.1815+16_1815+82del (MSH6)
ENST00000700009.1:n.1830_1896del (MSH6)
ENST00000700010.1:n.1055+16_1055+82del (MSH6)
ENST00000700011.1:n.2940+16_2940+82del (MSH6)
ENST00000234420.11:c.3646+16_3646+82del (MSH6) MANE Select ENSP00000234420.5:n.3646+16_3646+82del
ENST00000540021.6:c.3256+16_3256+82del (MSH6) ENSP00000446475.1:n.3256+16_3256+82del
ENST00000652107.1:c.3349+16_3349+82del (MSH6) ENSP00000498629.1:n.3349+16_3349+82del
ENST00000673637.1:c.3349+16_3349+82del (MSH6) ENSP00000501310.1:n.3349+16_3349+82del
ENST00000234420.9:c.3646+16_3646+82del (MSH6) ENSP00000234420.4:n.3646+16_3646+82del
ENST00000405808.5:c.169+2406_169+2472del (FBXO11) ENSP00000385127.1:n.169+2406_169+2472del
ENST00000434234.5:c.*124+2205_*124+2271del (FBXO11) ENSP00000402692.1:n.*124+2205_*124+2271del
ENST00000445503.5:c.*2993+16_*2993+82del (MSH6) ENSP00000405294.1:n.*2993+16_*2993+82del
ENST00000538136.1:c.2740+16_2740+82del (MSH6) ENSP00000438580.1:n.2740+16_2740+82del
ENST00000540021.5:c.3256+16_3256+82del (MSH6) ENSP00000446475.1:n.3256+16_3256+82del
ENST00000614496.4:c.2740+16_2740+82del (MSH6) ENSP00000477844.1:n.2740+16_2740+82del
ENST00000622629.4:c.550+16_550+82del (MSH6) ENSP00000482078.1:n.550+16_550+82del
NM_000179.2:c.3646+16_3646+82del , LRG_219t1:c.3646+16_3646+82del (MSH6) NP_000170.1:n.3646+16_3646+82del
NM_001281492.1:c.3256+16_3256+82del (MSH6) NP_001268421.1:n.3256+16_3256+82del
NM_001281493.1:c.2740+16_2740+82del (MSH6) NP_001268422.1:n.2740+16_2740+82del
NM_001281494.1:c.2740+16_2740+82del (MSH6) NP_001268423.1:n.2740+16_2740+82del
XM_005264271.1:c.3349+16_3349+82del (MSH6) XP_005264328.1:n.3349+16_3349+82del
XM_011532798.1:c.3463+16_3463+82del (MSH6) XP_011531100.1:n.3463+16_3463+82del
XM_011532799.1:c.3349+16_3349+82del (MSH6) XP_011531101.1:n.3349+16_3349+82del
XM_011532800.1:c.3349+16_3349+82del (MSH6) XP_011531102.1:n.3349+16_3349+82del
XM_024452819.1:c.3646+16_3646+82del (MSH6) XP_024308587.1:n.3646+16_3646+82del
XM_024452820.1:c.3463+16_3463+82del (MSH6) XP_024308588.1:n.3463+16_3463+82del
XM_024452821.1:c.3349+16_3349+82del (MSH6) XP_024308589.1:n.3349+16_3349+82del
XM_024452822.1:c.2740+16_2740+82del (MSH6) XP_024308590.1:n.2740+16_2740+82del
NM_000179.3:c.3646+16_3646+82del (MSH6) MANE Select NP_000170.1:n.3646+16_3646+82del
NM_001281492.2:c.3256+16_3256+82del (MSH6) NP_001268421.1:n.3256+16_3256+82del
NM_001281493.2:c.2740+16_2740+82del (MSH6) NP_001268422.1:n.2740+16_2740+82del
NM_001281494.2:c.2740+16_2740+82del (MSH6) NP_001268423.1:n.2740+16_2740+82del