Canonical Allele Identifier: CA2580067286

Linked Data

ClinVar Variation Id: 1733980
ClinVar RCV Id: RCV002352991

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806250_47806251insTAA , CM000664.2:g.47806250_47806251insTAA GRCh38
NC_000002.11:g.48033389_48033390insTAA , CM000664.1:g.48033389_48033390insTAA GRCh37
NC_000002.10:g.47886893_47886894insTAA NCBI36
NG_007111.1:g.28104_28105insTAA , LRG_219:g.28104_28105insTAA
NG_008397.1:g.104425_104426insTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3396_3397insTAA (MSH6)
ENST00000420813.6:c.3396_3397insTAA (MSH6)
ENST00000455383.6:c.3396_3397insTAA (MSH6)
ENST00000700004.2:c.3309_3310insTAA (MSH6)
ENST00000699999.1:n.4367_4368insTAA (MSH6)
ENST00000700000.1:c.2127_2128insTAA (MSH6)
ENST00000700002.1:c.3699_3700insTAA (MSH6)
ENST00000700003.1:c.1148_1149insTAA (MSH6) ENSP00000514751.1:n.1148_1149insTAA
ENST00000700004.1:c.2466_2467insTAA (MSH6)
ENST00000700005.1:n.2544_2545insTAA (MSH6)
ENST00000700006.1:n.4851_4852insTAA (MSH6)
ENST00000700007.1:n.2288_2289insTAA (MSH6)
ENST00000700008.1:n.1862_1863insTAA (MSH6)
ENST00000700009.1:n.2357_2358insTAA (MSH6)
ENST00000700010.1:n.1102_1103insTAA (MSH6)
ENST00000700011.1:n.2987_2988insTAA (MSH6)
ENST00000682451.1:n.4497_4498insTTA (FBXO11)
ENST00000684712.1:n.4759_4760insTTA (FBXO11)
ENST00000234420.11:c.3693_3694insTAA (MSH6)
ENST00000540021.6:c.3303_3304insTAA (MSH6)
ENST00000652107.1:c.3396_3397insTAA (MSH6)
ENST00000673637.1:c.3396_3397insTAA (MSH6)
ENST00000234420.9:c.3693_3694insTAA (MSH6)
ENST00000405808.5:c.169+1944_169+1945insTTA (FBXO11) ENSP00000385127.1:n.169+1944_169+1945insTTA
ENST00000434234.5:c.*124+1743_*124+1744insTTA (FBXO11) ENSP00000402692.1:n.*124+1743_*124+1744insTTA
ENST00000445503.5:c.*3040_*3041insTAA (MSH6) ENSP00000405294.1:n.*3040_*3041insTAA
ENST00000538136.1:c.2787_2788insTAA (MSH6)
ENST00000540021.5:c.3303_3304insTAA (MSH6)
ENST00000614496.4:c.2787_2788insTAA (MSH6)
ENST00000622629.4:c.597_598insTAA (MSH6)
NM_000179.2:c.3693_3694insTAA , LRG_219t1:c.3693_3694insTAA (MSH6)
NM_001281492.1:c.3303_3304insTAA (MSH6)
NM_001281493.1:c.2787_2788insTAA (MSH6)
NM_001281494.1:c.2787_2788insTAA (MSH6)
XM_005264271.1:c.3396_3397insTAA (MSH6)
XM_011532798.1:c.3510_3511insTAA (MSH6)
XM_011532799.1:c.3396_3397insTAA (MSH6)
XM_011532800.1:c.3396_3397insTAA (MSH6)
XM_024452819.1:c.3693_3694insTAA (MSH6)
XM_024452820.1:c.3510_3511insTAA (MSH6)
XM_024452821.1:c.3396_3397insTAA (MSH6)
XM_024452822.1:c.2787_2788insTAA (MSH6)
NM_000179.3:c.3693_3694insTAA (MSH6)
NM_001281492.2:c.3303_3304insTAA (MSH6)
NM_001281493.2:c.2787_2788insTAA (MSH6)
NM_001281494.2:c.2787_2788insTAA (MSH6)