Canonical Allele Identifier: CA2695200592

Linked Data

ClinVar Variation Id: 2673734
ClinVar RCV Id: RCV003450371

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806204_47806207del , CM000664.2:g.47806204_47806207del GRCh38
NC_000002.11:g.48033343_48033346del , CM000664.1:g.48033343_48033346del GRCh37
NC_000002.10:g.47886847_47886850del NCBI36
NG_007111.1:g.28058_28061del , LRG_219:g.28058_28061del
NG_008397.1:g.104471_104474del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3350_3353del (MSH6)
ENST00000420813.6:c.3350_3353del (MSH6)
ENST00000455383.6:c.3350_3353del (MSH6)
ENST00000700004.2:c.3263_3266del (MSH6)
ENST00000699999.1:n.4321_4324del (MSH6)
ENST00000700000.1:c.2081_2084del (MSH6)
ENST00000700002.1:c.3653_3656del (MSH6)
ENST00000700003.1:c.1102_1105del (MSH6)
ENST00000700004.1:c.2420_2423del (MSH6)
ENST00000700005.1:n.2498_2501del (MSH6)
ENST00000700006.1:n.4805_4808del (MSH6)
ENST00000700007.1:n.2242_2245del (MSH6)
ENST00000700008.1:n.1816_1819del (MSH6)
ENST00000700009.1:n.2311_2314del (MSH6)
ENST00000700010.1:n.1056_1059del (MSH6)
ENST00000700011.1:n.2941_2944del (MSH6)
ENST00000682451.1:n.4543_4546del (FBXO11)
ENST00000684712.1:n.4805_4808del (FBXO11)
ENST00000234420.11:c.3647_3650del (MSH6)
ENST00000540021.6:c.3257_3260del (MSH6)
ENST00000652107.1:c.3350_3353del (MSH6)
ENST00000673637.1:c.3350_3353del (MSH6)
ENST00000234420.9:c.3647_3650del (MSH6)
ENST00000405808.5:c.169+1990_169+1993del (FBXO11) ENSP00000385127.1:n.169+1990_169+1993del
ENST00000434234.5:c.*124+1789_*124+1792del (FBXO11) ENSP00000402692.1:n.*124+1789_*124+1792del
ENST00000445503.5:c.*2994_*2997del (MSH6)
ENST00000538136.1:c.2741_2744del (MSH6)
ENST00000540021.5:c.3257_3260del (MSH6)
ENST00000614496.4:c.2741_2744del (MSH6)
ENST00000622629.4:c.551_554del (MSH6)
NM_000179.2:c.3647_3650del , LRG_219t1:c.3647_3650del (MSH6)
NM_001281492.1:c.3257_3260del (MSH6)
NM_001281493.1:c.2741_2744del (MSH6)
NM_001281494.1:c.2741_2744del (MSH6)
XM_005264271.1:c.3350_3353del (MSH6)
XM_011532798.1:c.3464_3467del (MSH6)
XM_011532799.1:c.3350_3353del (MSH6)
XM_011532800.1:c.3350_3353del (MSH6)
XM_024452819.1:c.3647_3650del (MSH6)
XM_024452820.1:c.3464_3467del (MSH6)
XM_024452821.1:c.3350_3353del (MSH6)
XM_024452822.1:c.2741_2744del (MSH6)
NM_000179.3:c.3647_3650del (MSH6)
NM_001281492.2:c.3257_3260del (MSH6)
NM_001281493.2:c.2741_2744del (MSH6)
NM_001281494.2:c.2741_2744del (MSH6)