Canonical Allele Identifier: CA2580611315

Linked Data

ClinVar Variation Id: 2567481
ClinVar RCV Id: RCV003311263

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47798739_47798744del , CM000664.2:g.47798739_47798744del GRCh38
NC_000002.11:g.48025878_48025883del , CM000664.1:g.48025878_48025883del GRCh37
NC_000002.10:g.47879382_47879387del NCBI36
NG_007111.1:g.20593_20598del , LRG_219:g.20593_20598del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.459_464del (MSH6) ENSP00000406248.2:p.Asp154_Ser155del
ENST00000420813.6:c.459_464del (MSH6) ENSP00000390382.2:p.Asp154_Ser155del
ENST00000455383.6:c.459_464del (MSH6) ENSP00000397484.2:p.Asp154_Ser155del
ENST00000700004.2:c.756_761del (MSH6) ENSP00000514752.2:p.Asp253_Ser254del
ENST00000699999.1:n.840_845del (MSH6)
ENST00000700000.1:c.756_761del (MSH6) ENSP00000514749.1:p.Asp253_Ser254del
ENST00000700002.1:c.762_767del (MSH6) ENSP00000514750.1:p.Asp255_Ser256del
ENST00000700003.1:c.627+2676_627+2681del (MSH6) ENSP00000514751.1:n.627+2676_627+2681del
ENST00000234420.11:c.756_761del (MSH6) MANE Select ENSP00000234420.5:p.Asp253_Ser254del
ENST00000540021.6:c.366_371del (MSH6) ENSP00000446475.1:p.Asp123_Ser124del
ENST00000652107.1:c.459_464del (MSH6) ENSP00000498629.1:p.Asp154_Ser155del
ENST00000673637.1:c.459_464del (MSH6) ENSP00000501310.1:p.Asp154_Ser155del
ENST00000673922.1:n.478_483del (MSH6)
ENST00000234420.9:c.756_761del (MSH6) ENSP00000234420.4:p.Asp253_Ser254del
ENST00000405808.5:c.170-9302_170-9297del (FBXO11) ENSP00000385127.1:n.170-9302_170-9297del
ENST00000434234.5:c.*124+9252_*124+9257del (FBXO11) ENSP00000402692.1:n.*124+9252_*124+9257del
ENST00000445503.5:c.*103_*108del (MSH6) ENSP00000405294.1:n.*103_*108del
ENST00000456246.1:c.*244_*249del (MSH6) ENSP00000410570.1:n.*244_*249del
ENST00000538136.1:c.-151_-146del (MSH6) ENSP00000438580.1:n.-151_-146del
ENST00000540021.5:c.366_371del (MSH6) ENSP00000446475.1:p.Asp123_Ser124del
ENST00000614496.4:c.-151_-146del (MSH6) ENSP00000477844.1:n.-151_-146del
ENST00000616033.4:c.753_758del (MSH6) ENSP00000480261.1:p.Asp252_Ser253del
ENST00000622629.4:c.-2341_-2336del (MSH6) ENSP00000482078.1:n.-2341_-2336del
NM_000179.2:c.756_761del , LRG_219t1:c.756_761del (MSH6) NP_000170.1:p.Asp253_Ser254del
NM_001281492.1:c.366_371del (MSH6) NP_001268421.1:p.Asp123_Ser124del
NM_001281493.1:c.-151_-146del (MSH6) NP_001268422.1:n.-151_-146del
NM_001281494.1:c.-151_-146del (MSH6) NP_001268423.1:n.-151_-146del
XM_005264271.1:c.459_464del (MSH6) XP_005264328.1:p.Asp154_Ser155del
XM_011532798.1:c.573_578del (MSH6) XP_011531100.1:p.Asp192_Ser193del
XM_011532799.1:c.459_464del (MSH6) XP_011531101.1:p.Asp154_Ser155del
XM_011532800.1:c.459_464del (MSH6) XP_011531102.1:p.Asp154_Ser155del
XM_024452819.1:c.756_761del (MSH6) XP_024308587.1:p.Asp253_Ser254del
XM_024452820.1:c.573_578del (MSH6) XP_024308588.1:p.Asp192_Ser193del
XM_024452821.1:c.459_464del (MSH6) XP_024308589.1:p.Asp154_Ser155del
XM_024452822.1:c.-151_-146del (MSH6) XP_024308590.1:n.-151_-146del
NM_000179.3:c.756_761del (MSH6) MANE Select NP_000170.1:p.Asp253_Ser254del
NM_001281492.2:c.366_371del (MSH6) NP_001268421.1:p.Asp123_Ser124del
NM_001281493.2:c.-151_-146del (MSH6) NP_001268422.1:n.-151_-146del
NM_001281494.2:c.-151_-146del (MSH6) NP_001268423.1:n.-151_-146del