Canonical Allele Identifier: CA2695200508

Linked Data

ClinVar Variation Id: 2676829
ClinVar RCV Id: RCV003470258

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47798867_47798868del , CM000664.2:g.47798867_47798868del GRCh38
NC_000002.11:g.48026006_48026007del , CM000664.1:g.48026006_48026007del GRCh37
NC_000002.10:g.47879510_47879511del NCBI36
NG_007111.1:g.20721_20722del , LRG_219:g.20721_20722del

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.587_588del (MSH6) ENSP00000406248.2:p.Lys196SerfsTer16
ENST00000420813.6:c.587_588del (MSH6) ENSP00000390382.2:p.Lys196SerfsTer16
ENST00000455383.6:c.587_588del (MSH6) ENSP00000397484.2:p.Lys196SerfsTer16
ENST00000700004.2:c.884_885del (MSH6) ENSP00000514752.2:p.Lys295SerfsTer16
ENST00000699999.1:n.968_969del (MSH6)
ENST00000700000.1:c.884_885del (MSH6) ENSP00000514749.1:p.Lys295SerfsTer16
ENST00000700002.1:c.890_891del (MSH6) ENSP00000514750.1:p.Lys297SerfsTer16
ENST00000700003.1:c.627+2804_627+2805del (MSH6) ENSP00000514751.1:n.627+2804_627+2805del
ENST00000700004.1:c.41_42del (MSH6) ENSP00000514752.1:p.Lys14SerfsTer16
ENST00000234420.11:c.884_885del (MSH6) MANE Select ENSP00000234420.5:p.Lys295SerfsTer16
ENST00000540021.6:c.494_495del (MSH6) ENSP00000446475.1:p.Lys165SerfsTer16
ENST00000652107.1:c.587_588del (MSH6) ENSP00000498629.1:p.Lys196SerfsTer16
ENST00000673637.1:c.587_588del (MSH6) ENSP00000501310.1:p.Lys196SerfsTer16
ENST00000234420.9:c.884_885del (MSH6) ENSP00000234420.4:p.Lys295SerfsTer16
ENST00000405808.5:c.169+9328_169+9329del (FBXO11) ENSP00000385127.1:n.169+9328_169+9329del
ENST00000434234.5:c.*124+9127_*124+9128del (FBXO11) ENSP00000402692.1:n.*124+9127_*124+9128del
ENST00000445503.5:c.*231_*232del (MSH6) ENSP00000405294.1:n.*231_*232del
ENST00000456246.1:c.*372_*373del (MSH6) ENSP00000410570.1:n.*372_*373del
ENST00000538136.1:c.-23_-22del (MSH6) ENSP00000438580.1:n.-23_-22del
ENST00000540021.5:c.494_495del (MSH6) ENSP00000446475.1:p.Lys165SerfsTer16
ENST00000614496.4:c.-23_-22del (MSH6) ENSP00000477844.1:n.-23_-22del
ENST00000616033.4:c.881_882del (MSH6) ENSP00000480261.1:p.Lys294SerfsTer16
ENST00000622629.4:c.-2213_-2212del (MSH6) ENSP00000482078.1:n.-2213_-2212del
NM_000179.2:c.884_885del , LRG_219t1:c.884_885del (MSH6) NP_000170.1:p.Lys295SerfsTer16
NM_001281492.1:c.494_495del (MSH6) NP_001268421.1:p.Lys165SerfsTer16
NM_001281493.1:c.-23_-22del (MSH6) NP_001268422.1:n.-23_-22del
NM_001281494.1:c.-23_-22del (MSH6) NP_001268423.1:n.-23_-22del
XM_005264271.1:c.587_588del (MSH6) XP_005264328.1:p.Lys196SerfsTer16
XM_011532798.1:c.701_702del (MSH6) XP_011531100.1:p.Lys234SerfsTer16
XM_011532799.1:c.587_588del (MSH6) XP_011531101.1:p.Lys196SerfsTer16
XM_011532800.1:c.587_588del (MSH6) XP_011531102.1:p.Lys196SerfsTer16
XM_024452819.1:c.884_885del (MSH6) XP_024308587.1:p.Lys295SerfsTer16
XM_024452820.1:c.701_702del (MSH6) XP_024308588.1:p.Lys234SerfsTer16
XM_024452821.1:c.587_588del (MSH6) XP_024308589.1:p.Lys196SerfsTer16
XM_024452822.1:c.-23_-22del (MSH6) XP_024308590.1:n.-23_-22del
NM_000179.3:c.884_885del (MSH6) MANE Select NP_000170.1:p.Lys295SerfsTer16
NM_001281492.2:c.494_495del (MSH6) NP_001268421.1:p.Lys165SerfsTer16
NM_001281493.2:c.-23_-22del (MSH6) NP_001268422.1:n.-23_-22del
NM_001281494.2:c.-23_-22del (MSH6) NP_001268423.1:n.-23_-22del