Canonical Allele Identifier: CA10577256
Gene: MSH6 HGNC NCBI
FBXO11 HGNC NCBI

Linked Data

ClinVar Variation Id: 234624
ClinVar RCV Id: RCV000216047 RCV003454672
dbSNP Id: rs876661125
MyVariant Identifiers: chr2:g.48018263del (hg19) chr2:g.47791124del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47791124del , CM000664.2:g.47791124del GRCh38
NC_000002.11:g.48018263del , CM000664.1:g.48018263del GRCh37
NC_000002.10:g.47871767del NCBI36
NG_007111.1:g.12978del , LRG_219:g.12978del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.160+1del (MSH6)
ENST00000420813.6:c.160+1del (MSH6)
ENST00000455383.6:c.160+1del (MSH6)
ENST00000700004.2:c.457+1del (MSH6)
ENST00000699999.1:n.541+1del (MSH6)
ENST00000700000.1:c.457+1del (MSH6)
ENST00000700001.1:n.529+1del (MSH6)
ENST00000700002.1:c.457+1del (MSH6)
ENST00000700003.1:c.457+1del (MSH6)
ENST00000234420.11:c.457+1del (MSH6)
ENST00000540021.6:c.238-7487del (MSH6) ENSP00000446475.1:n.238-7487del
ENST00000652107.1:c.160+1del (MSH6)
ENST00000673637.1:c.160+1del (MSH6)
ENST00000673922.1:n.350-7487del (MSH6)
ENST00000234420.9:c.457+1del (MSH6)
ENST00000405808.5:c.170-1683del (FBXO11) ENSP00000385127.1:n.170-1683del
ENST00000411819.1:c.160+1del (MSH6)
ENST00000420813.5:c.160+1del (MSH6)
ENST00000434234.5:c.*125-1683del (FBXO11) ENSP00000402692.1:n.*125-1683del
ENST00000445503.5:c.457+1del (MSH6)
ENST00000455383.5:c.160+1del (MSH6)
ENST00000456246.1:c.261-4770del (MSH6) ENSP00000410570.1:n.261-4770del
ENST00000538136.1:c.-446+1del (MSH6)
ENST00000540021.5:c.238-7487del (MSH6) ENSP00000446475.1:n.238-7487del
ENST00000614496.4:c.-280+1del (MSH6)
ENST00000616033.4:c.454+1del (MSH6)
ENST00000622629.4:c.-2640+1del (MSH6)
NM_000179.2:c.457+1del , LRG_219t1:c.457+1del (MSH6)
NM_001281492.1:c.238-7487del (MSH6) NP_001268421.1:n.238-7487del
NM_001281493.1:c.-280+1del (MSH6)
NM_001281494.1:c.-446+1del (MSH6)
XM_005264271.1:c.160+1del (MSH6)
XM_011532798.1:c.274+1del (MSH6)
XM_011532799.1:c.160+1del (MSH6)
XM_011532800.1:c.160+1del (MSH6)
XM_024452819.1:c.457+1del (MSH6)
XM_024452820.1:c.274+1del (MSH6)
XM_024452821.1:c.160+1del (MSH6)
XM_024452822.1:c.-280+1del (MSH6)
NM_000179.3:c.457+1del (MSH6)
NM_001281492.2:c.238-7487del (MSH6) NP_001268421.1:n.238-7487del
NM_001281493.2:c.-280+1del (MSH6)
NM_001281494.2:c.-446+1del (MSH6)
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