Canonical Allele Identifier: CA2695200587

Linked Data

ClinVar Variation Id: 2673579
ClinVar RCV Id: RCV003450216

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47805705_47805712del , CM000664.2:g.47805705_47805712del GRCh38
NC_000002.11:g.48032844_48032851del , CM000664.1:g.48032844_48032851del GRCh37
NC_000002.10:g.47886348_47886355del NCBI36
NG_007111.1:g.27559_27566del , LRG_219:g.27559_27566del
NG_008397.1:g.104964_104971del

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3347_3349+5del (MSH6)
ENST00000420813.6:c.3347_3349+5del (MSH6)
ENST00000455383.6:c.3347_3349+5del (MSH6)
ENST00000700004.2:c.3260_3262+5del (MSH6)
ENST00000699999.1:n.4318_4320+5del (MSH6)
ENST00000700000.1:c.2078_2080+5del (MSH6)
ENST00000700002.1:c.3650_3652+5del (MSH6)
ENST00000700003.1:c.1099_1101+5del (MSH6)
ENST00000700004.1:c.2417_2419+5del (MSH6)
ENST00000700005.1:n.2495_2497+5del (MSH6)
ENST00000700006.1:n.4306_4313del (MSH6)
ENST00000700007.1:n.2239_2241+5del (MSH6)
ENST00000700008.1:n.1813_1815+5del (MSH6)
ENST00000700009.1:n.1812_1819del (MSH6)
ENST00000700010.1:n.1053_1055+5del (MSH6)
ENST00000700011.1:n.2938_2940+5del (MSH6)
ENST00000234420.11:c.3644_3646+5del (MSH6)
ENST00000540021.6:c.3254_3256+5del (MSH6)
ENST00000652107.1:c.3347_3349+5del (MSH6)
ENST00000673637.1:c.3347_3349+5del (MSH6)
ENST00000234420.9:c.3644_3646+5del (MSH6)
ENST00000405808.5:c.169+2483_169+2490del (FBXO11) ENSP00000385127.1:n.169+2483_169+2490del
ENST00000434234.5:c.*124+2282_*124+2289del (FBXO11) ENSP00000402692.1:n.*124+2282_*124+2289del
ENST00000445503.5:c.*2991_*2993+5del (MSH6)
ENST00000538136.1:c.2738_2740+5del (MSH6)
ENST00000540021.5:c.3254_3256+5del (MSH6)
ENST00000614496.4:c.2738_2740+5del (MSH6)
ENST00000622629.4:c.548_550+5del (MSH6)
NM_000179.2:c.3644_3646+5del , LRG_219t1:c.3644_3646+5del (MSH6)
NM_001281492.1:c.3254_3256+5del (MSH6)
NM_001281493.1:c.2738_2740+5del (MSH6)
NM_001281494.1:c.2738_2740+5del (MSH6)
XM_005264271.1:c.3347_3349+5del (MSH6)
XM_011532798.1:c.3461_3463+5del (MSH6)
XM_011532799.1:c.3347_3349+5del (MSH6)
XM_011532800.1:c.3347_3349+5del (MSH6)
XM_024452819.1:c.3644_3646+5del (MSH6)
XM_024452820.1:c.3461_3463+5del (MSH6)
XM_024452821.1:c.3347_3349+5del (MSH6)
XM_024452822.1:c.2738_2740+5del (MSH6)
NM_000179.3:c.3644_3646+5del (MSH6)
NM_001281492.2:c.3254_3256+5del (MSH6)
NM_001281493.2:c.2738_2740+5del (MSH6)
NM_001281494.2:c.2738_2740+5del (MSH6)