Canonical Allele Identifier: CA2499216143

Linked Data

ClinVar Variation Id: 1067509
ClinVar RCV Id: RCV001378802
dbSNP Id: rs2104535143

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806167_47806241del , CM000664.2:g.47806167_47806241del GRCh38
NC_000002.11:g.48033306_48033380del , CM000664.1:g.48033306_48033380del GRCh37
NC_000002.10:g.47886810_47886884del NCBI36
NG_007111.1:g.28021_28095del , LRG_219:g.28021_28095del
NG_008397.1:g.104435_104509del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3350-37_3387del (MSH6)
ENST00000420813.6:c.3350-37_3387del (MSH6)
ENST00000455383.6:c.3350-37_3387del (MSH6)
ENST00000700004.2:c.3263-37_3300del (MSH6)
ENST00000699999.1:n.4321-37_4358del (MSH6)
ENST00000700000.1:c.2081-37_2118del (MSH6)
ENST00000700002.1:c.3653-37_3690del (MSH6)
ENST00000700003.1:c.1102-37_1139del (MSH6)
ENST00000700004.1:c.2420-37_2457del (MSH6)
ENST00000700005.1:n.2498-37_2535del (MSH6)
ENST00000700006.1:n.4768_4842del (MSH6)
ENST00000700007.1:n.2242-37_2279del (MSH6)
ENST00000700008.1:n.1816-37_1853del (MSH6)
ENST00000700009.1:n.2274_2348del (MSH6)
ENST00000700010.1:n.1056-37_1093del (MSH6)
ENST00000700011.1:n.2941-37_2978del (MSH6)
ENST00000682451.1:n.4507_4581del (FBXO11)
ENST00000684712.1:n.4769_4843del (FBXO11)
ENST00000234420.11:c.3647-37_3684del (MSH6)
ENST00000540021.6:c.3257-37_3294del (MSH6)
ENST00000652107.1:c.3350-37_3387del (MSH6)
ENST00000673637.1:c.3350-37_3387del (MSH6)
ENST00000234420.9:c.3647-37_3684del (MSH6)
ENST00000405808.5:c.169+1954_169+2028del (FBXO11) ENSP00000385127.1:n.169+1954_169+2028del
ENST00000434234.5:c.*124+1753_*124+1827del (FBXO11) ENSP00000402692.1:n.*124+1753_*124+1827de...
ENST00000445503.5:c.*2994-37_*3031del (MSH6)
ENST00000538136.1:c.2741-37_2778del (MSH6)
ENST00000540021.5:c.3257-37_3294del (MSH6)
ENST00000614496.4:c.2741-37_2778del (MSH6)
ENST00000622629.4:c.551-37_588del (MSH6)
NM_000179.2:c.3647-37_3684del , LRG_219t1:c.3647-37_3684del (MSH6)
NM_001281492.1:c.3257-37_3294del (MSH6)
NM_001281493.1:c.2741-37_2778del (MSH6)
NM_001281494.1:c.2741-37_2778del (MSH6)
XM_005264271.1:c.3350-37_3387del (MSH6)
XM_011532798.1:c.3464-37_3501del (MSH6)
XM_011532799.1:c.3350-37_3387del (MSH6)
XM_011532800.1:c.3350-37_3387del (MSH6)
XM_024452819.1:c.3647-37_3684del (MSH6)
XM_024452820.1:c.3464-37_3501del (MSH6)
XM_024452821.1:c.3350-37_3387del (MSH6)
XM_024452822.1:c.2741-37_2778del (MSH6)
NM_000179.3:c.3647-37_3684del (MSH6)
NM_001281492.2:c.3257-37_3294del (MSH6)
NM_001281493.2:c.2741-37_2778del (MSH6)
NM_001281494.2:c.2741-37_2778del (MSH6)