Canonical Allele Identifier: CA2580067063

Linked Data

ClinVar Variation Id: 1730311
ClinVar RCV Id: RCV002326487

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47803577_47803591del , CM000664.2:g.47803577_47803591del GRCh38
NC_000002.11:g.48030716_48030730del , CM000664.1:g.48030716_48030730del GRCh37
NC_000002.10:g.47884220_47884234del NCBI36
NG_007111.1:g.25431_25445del , LRG_219:g.25431_25445del

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3033_3047del (MSH6) ENSP00000406248.2:p.Asn1012_Ile1016del
ENST00000420813.6:c.3033_3047del (MSH6) ENSP00000390382.2:p.Asn1012_Ile1016del
ENST00000455383.6:c.3033_3047del (MSH6) ENSP00000397484.2:p.Asn1012_Ile1016del
ENST00000700004.2:c.3173-2041_3173-2027del (MSH6) ENSP00000514752.2:n.3173-2041_3173-2027del
ENST00000699999.1:n.3414_3428del (MSH6)
ENST00000700000.1:c.1764_1778del (MSH6) ENSP00000514749.1:p.Asn589_Ile593del
ENST00000700002.1:c.3336_3350del (MSH6) ENSP00000514750.1:p.Asn1113_Ile1117del
ENST00000700003.1:c.785_799del (MSH6) ENSP00000514751.1:n.785_799del
ENST00000700004.1:c.2330-2041_2330-2027del (MSH6) ENSP00000514752.1:n.2330-2041_2330-2027del
ENST00000700005.1:n.2181_2195del (MSH6)
ENST00000700006.1:n.2178_2192del (MSH6)
ENST00000700007.1:n.1335_1349del (MSH6)
ENST00000700008.1:n.909_923del (MSH6)
ENST00000700009.1:n.908_922del (MSH6)
ENST00000700010.1:n.739_753del (MSH6)
ENST00000700011.1:n.810_824del (MSH6)
ENST00000234420.11:c.3330_3344del (MSH6) MANE Select ENSP00000234420.5:p.Asn1111_Ile1115del
ENST00000540021.6:c.2940_2954del (MSH6) ENSP00000446475.1:p.Asn981_Ile985del
ENST00000652107.1:c.3033_3047del (MSH6) ENSP00000498629.1:p.Asn1012_Ile1016del
ENST00000673637.1:c.3033_3047del (MSH6) ENSP00000501310.1:p.Asn1012_Ile1016del
ENST00000234420.9:c.3330_3344del (MSH6) ENSP00000234420.4:p.Asn1111_Ile1115del
ENST00000405808.5:c.169+4604_169+4618del (FBXO11) ENSP00000385127.1:n.169+4604_169+4618del
ENST00000434234.5:c.*124+4403_*124+4417del (FBXO11) ENSP00000402692.1:n.*124+4403_*124+4417del
ENST00000445503.5:c.*2677_*2691del (MSH6) ENSP00000405294.1:n.*2677_*2691del
ENST00000538136.1:c.2424_2438del (MSH6) ENSP00000438580.1:p.Asn809_Ile813del
ENST00000540021.5:c.2940_2954del (MSH6) ENSP00000446475.1:p.Asn981_Ile985del
ENST00000614496.4:c.2424_2438del (MSH6) ENSP00000477844.1:p.Asn809_Ile813del
ENST00000622629.4:c.234_248del (MSH6) ENSP00000482078.1:p.Asn79_Ile83del
NM_000179.2:c.3330_3344del , LRG_219t1:c.3330_3344del (MSH6) NP_000170.1:p.Asn1111_Ile1115del
NM_001281492.1:c.2940_2954del (MSH6) NP_001268421.1:p.Asn981_Ile985del
NM_001281493.1:c.2424_2438del (MSH6) NP_001268422.1:p.Asn809_Ile813del
NM_001281494.1:c.2424_2438del (MSH6) NP_001268423.1:p.Asn809_Ile813del
XM_005264271.1:c.3033_3047del (MSH6) XP_005264328.1:p.Asn1012_Ile1016del
XM_011532798.1:c.3147_3161del (MSH6) XP_011531100.1:p.Asn1050_Ile1054del
XM_011532799.1:c.3033_3047del (MSH6) XP_011531101.1:p.Asn1012_Ile1016del
XM_011532800.1:c.3033_3047del (MSH6) XP_011531102.1:p.Asn1012_Ile1016del
XM_024452819.1:c.3330_3344del (MSH6) XP_024308587.1:p.Asn1111_Ile1115del
XM_024452820.1:c.3147_3161del (MSH6) XP_024308588.1:p.Asn1050_Ile1054del
XM_024452821.1:c.3033_3047del (MSH6) XP_024308589.1:p.Asn1012_Ile1016del
XM_024452822.1:c.2424_2438del (MSH6) XP_024308590.1:p.Asn809_Ile813del
NM_000179.3:c.3330_3344del (MSH6) MANE Select NP_000170.1:p.Asn1111_Ile1115del
NM_001281492.2:c.2940_2954del (MSH6) NP_001268421.1:p.Asn981_Ile985del
NM_001281493.2:c.2424_2438del (MSH6) NP_001268422.1:p.Asn809_Ile813del
NM_001281494.2:c.2424_2438del (MSH6) NP_001268423.1:p.Asn809_Ile813del