Canonical Allele Identifier: CA2580067117

Linked Data

ClinVar Variation Id: 1959210
ClinVar RCV Id: RCV002701165

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47803696_47803700del , CM000664.2:g.47803696_47803700del GRCh38
NC_000002.11:g.48030835_48030839del , CM000664.1:g.48030835_48030839del GRCh37
NC_000002.10:g.47884339_47884343del NCBI36
NG_007111.1:g.25550_25554del , LRG_219:g.25550_25554del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3141+11_3141+15del (MSH6) ENSP00000406248.2:n.3141+11_3141+15del
ENST00000420813.6:c.3141+11_3141+15del (MSH6) ENSP00000390382.2:n.3141+11_3141+15del
ENST00000455383.6:c.3141+11_3141+15del (MSH6) ENSP00000397484.2:n.3141+11_3141+15del
ENST00000700004.2:c.3173-1922_3173-1918del (MSH6) ENSP00000514752.2:n.3173-1922_3173-1918del
ENST00000699999.1:n.3522+11_3522+15del (MSH6)
ENST00000700000.1:c.1872+11_1872+15del (MSH6) ENSP00000514749.1:n.1872+11_1872+15del
ENST00000700002.1:c.3444+11_3444+15del (MSH6) ENSP00000514750.1:n.3444+11_3444+15del
ENST00000700003.1:c.893+11_893+15del (MSH6) ENSP00000514751.1:n.893+11_893+15del
ENST00000700004.1:c.2330-1922_2330-1918del (MSH6) ENSP00000514752.1:n.2330-1922_2330-1918del
ENST00000700005.1:n.2289+11_2289+15del (MSH6)
ENST00000700006.1:n.2297_2301del (MSH6)
ENST00000700007.1:n.1443+11_1443+15del (MSH6)
ENST00000700008.1:n.1017+11_1017+15del (MSH6)
ENST00000700009.1:n.1016+11_1016+15del (MSH6)
ENST00000700010.1:n.847+11_847+15del (MSH6)
ENST00000700011.1:n.929_933del (MSH6)
ENST00000234420.11:c.3438+11_3438+15del (MSH6) MANE Select ENSP00000234420.5:n.3438+11_3438+15del
ENST00000540021.6:c.3048+11_3048+15del (MSH6) ENSP00000446475.1:n.3048+11_3048+15del
ENST00000652107.1:c.3141+11_3141+15del (MSH6) ENSP00000498629.1:n.3141+11_3141+15del
ENST00000673637.1:c.3141+11_3141+15del (MSH6) ENSP00000501310.1:n.3141+11_3141+15del
ENST00000234420.9:c.3438+11_3438+15del (MSH6) ENSP00000234420.4:n.3438+11_3438+15del
ENST00000405808.5:c.169+4495_169+4499del (FBXO11) ENSP00000385127.1:n.169+4495_169+4499del
ENST00000434234.5:c.*124+4294_*124+4298del (FBXO11) ENSP00000402692.1:n.*124+4294_*124+4298del
ENST00000445503.5:c.*2785+11_*2785+15del (MSH6) ENSP00000405294.1:n.*2785+11_*2785+15del
ENST00000538136.1:c.2532+11_2532+15del (MSH6) ENSP00000438580.1:n.2532+11_2532+15del
ENST00000540021.5:c.3048+11_3048+15del (MSH6) ENSP00000446475.1:n.3048+11_3048+15del
ENST00000614496.4:c.2532+11_2532+15del (MSH6) ENSP00000477844.1:n.2532+11_2532+15del
ENST00000622629.4:c.334+18_334+22del (MSH6) ENSP00000482078.1:n.334+18_334+22del
NM_000179.2:c.3438+11_3438+15del , LRG_219t1:c.3438+11_3438+15del (MSH6) NP_000170.1:n.3438+11_3438+15del
NM_001281492.1:c.3048+11_3048+15del (MSH6) NP_001268421.1:n.3048+11_3048+15del
NM_001281493.1:c.2532+11_2532+15del (MSH6) NP_001268422.1:n.2532+11_2532+15del
NM_001281494.1:c.2532+11_2532+15del (MSH6) NP_001268423.1:n.2532+11_2532+15del
XM_005264271.1:c.3141+11_3141+15del (MSH6) XP_005264328.1:n.3141+11_3141+15del
XM_011532798.1:c.3255+11_3255+15del (MSH6) XP_011531100.1:n.3255+11_3255+15del
XM_011532799.1:c.3141+11_3141+15del (MSH6) XP_011531101.1:n.3141+11_3141+15del
XM_011532800.1:c.3141+11_3141+15del (MSH6) XP_011531102.1:n.3141+11_3141+15del
XM_024452819.1:c.3438+11_3438+15del (MSH6) XP_024308587.1:n.3438+11_3438+15del
XM_024452820.1:c.3255+11_3255+15del (MSH6) XP_024308588.1:n.3255+11_3255+15del
XM_024452821.1:c.3141+11_3141+15del (MSH6) XP_024308589.1:n.3141+11_3141+15del
XM_024452822.1:c.2532+11_2532+15del (MSH6) XP_024308590.1:n.2532+11_2532+15del
NM_000179.3:c.3438+11_3438+15del (MSH6) MANE Select NP_000170.1:n.3438+11_3438+15del
NM_001281492.2:c.3048+11_3048+15del (MSH6) NP_001268421.1:n.3048+11_3048+15del
NM_001281493.2:c.2532+11_2532+15del (MSH6) NP_001268422.1:n.2532+11_2532+15del
NM_001281494.2:c.2532+11_2532+15del (MSH6) NP_001268423.1:n.2532+11_2532+15del