Canonical Allele Identifier: CA330544
Gene: MSH6 HGNC NCBI
FBXO11 HGNC NCBI

Linked Data

ClinVar Variation Id: 89433
ClinVar RCV Id: RCV000074901
dbSNP Id: rs267608106
MyVariant Identifiers: chr2:g.48032846_48032849del (hg19) chr2:g.47805707_47805710del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47805707_47805710del , CM000664.2:g.47805707_47805710del GRCh38
NC_000002.11:g.48032846_48032849del , CM000664.1:g.48032846_48032849del GRCh37
NC_000002.10:g.47886350_47886353del NCBI36
NG_007111.1:g.27561_27564del , LRG_219:g.27561_27564del
NG_008397.1:g.104968_104971del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3349_3349+3del (MSH6)
ENST00000420813.6:c.3349_3349+3del (MSH6)
ENST00000455383.6:c.3349_3349+3del (MSH6)
ENST00000700004.2:c.3262_3262+3del (MSH6)
ENST00000699999.1:n.4320_4320+3del (MSH6)
ENST00000700000.1:c.2080_2080+3del (MSH6)
ENST00000700002.1:c.3652_3652+3del (MSH6)
ENST00000700003.1:c.1101_1101+3del (MSH6)
ENST00000700004.1:c.2419_2419+3del (MSH6)
ENST00000700005.1:n.2497_2497+3del (MSH6)
ENST00000700006.1:n.4308_4311del (MSH6)
ENST00000700007.1:n.2241_2241+3del (MSH6)
ENST00000700008.1:n.1815_1815+3del (MSH6)
ENST00000700009.1:n.1814_1817del (MSH6)
ENST00000700010.1:n.1055_1055+3del (MSH6)
ENST00000700011.1:n.2940_2940+3del (MSH6)
ENST00000234420.11:c.3646_3646+3del (MSH6)
ENST00000540021.6:c.3256_3256+3del (MSH6)
ENST00000652107.1:c.3349_3349+3del (MSH6)
ENST00000673637.1:c.3349_3349+3del (MSH6)
ENST00000234420.9:c.3646_3646+3del (MSH6)
ENST00000405808.5:c.169+2487_169+2490del (FBXO11) ENSP00000385127.1:n.169+2487_169+2490del
ENST00000434234.5:c.*124+2286_*124+2289del (FBXO11) ENSP00000402692.1:n.*124+2286_*124+2289de...
ENST00000445503.5:c.*2993_*2993+3del (MSH6)
ENST00000538136.1:c.2740_2740+3del (MSH6)
ENST00000540021.5:c.3256_3256+3del (MSH6)
ENST00000614496.4:c.2740_2740+3del (MSH6)
ENST00000622629.4:c.550_550+3del (MSH6)
NM_000179.2:c.3646_3646+3del , LRG_219t1:c.3646_3646+3del (MSH6)
NM_001281492.1:c.3256_3256+3del (MSH6)
NM_001281493.1:c.2740_2740+3del (MSH6)
NM_001281494.1:c.2740_2740+3del (MSH6)
XM_005264271.1:c.3349_3349+3del (MSH6)
XM_011532798.1:c.3463_3463+3del (MSH6)
XM_011532799.1:c.3349_3349+3del (MSH6)
XM_011532800.1:c.3349_3349+3del (MSH6)
XM_024452819.1:c.3646_3646+3del (MSH6)
XM_024452820.1:c.3463_3463+3del (MSH6)
XM_024452821.1:c.3349_3349+3del (MSH6)
XM_024452822.1:c.2740_2740+3del (MSH6)
NM_000179.3:c.3646_3646+3del (MSH6)
NM_001281492.2:c.3256_3256+3del (MSH6)
NM_001281493.2:c.2740_2740+3del (MSH6)
NM_001281494.2:c.2740_2740+3del (MSH6)
Search 100 bp 5'
Search 100 bp 3'