Canonical Allele Identifier: CA2658965776

Gene: MSH6

Linked Data

• gnomAD v4: 2-47783426-TCACCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783428_47783432del , CM000664.2:g.47783428_47783432del	GRCh38
NC_000002.11:g.48010567_48010571del , CM000664.1:g.48010567_48010571del	GRCh37
NC_000002.10:g.47864071_47864075del	NCBI36
NG_007111.1:g.5282_5286del , LRG_219:g.5282_5286del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700004.2:c.195_199del	ENSP00000514752.2:p.Pro66GlnfsTer22
ENST00000699999.1:n.279_283del
ENST00000700000.1:c.195_199del	ENSP00000514749.1:p.Pro66GlnfsTer22
ENST00000700001.1:n.267_271del
ENST00000700002.1:c.195_199del	ENSP00000514750.1:p.Pro66GlnfsTer22
ENST00000700003.1:c.195_199del	ENSP00000514751.1:p.Pro66GlnfsTer22
ENST00000234420.11:c.195_199del MANE Select	ENSP00000234420.5:p.Pro66GlnfsTer22
ENST00000540021.6:c.195_199del	ENSP00000446475.1:p.Pro66GlnfsTer21
ENST00000652107.1:c.-37-7499_-37-7495del	ENSP00000498629.1:n.-37-7499_-37-7495del
ENST00000673637.1:c.-38+197_-38+201del	ENSP00000501310.1:n.-38+197_-38+201del
ENST00000673922.1:n.284_288del
ENST00000234420.9:c.195_199del	ENSP00000234420.4:p.Pro66GlnfsTer22
ENST00000445503.5:c.195_199del	ENSP00000405294.1:p.Pro66GlnfsTer22
ENST00000456246.1:c.195_199del	ENSP00000410570.1:p.Pro66GlnfsTer?
ENST00000493177.1:n.259_263del
ENST00000540021.5:c.195_199del	ENSP00000446475.1:p.Pro66GlnfsTer21
ENST00000606499.1:c.-37-7499_-37-7495del	ENSP00000475605.1:n.-37-7499_-37-7495del
ENST00000614496.4:c.-542_-538del	ENSP00000477844.1:n.-542_-538del
ENST00000616033.4:c.192_196del	ENSP00000480261.1:p.Pro65GlnfsTer22
ENST00000622629.4:c.-2902_-2898del	ENSP00000482078.1:n.-2902_-2898del
NM_000179.2:c.195_199del , LRG_219t1:c.195_199del	NP_000170.1:p.Pro66GlnfsTer22
NM_001281492.1:c.195_199del	NP_001268421.1:p.Pro66GlnfsTer21
NM_001281493.1:c.-542_-538del	NP_001268422.1:n.-542_-538del
XM_011532800.1:c.-38+197_-38+201del	XP_011531102.1:n.-38+197_-38+201del
XM_024452819.1:c.195_199del	XP_024308587.1:p.Pro66GlnfsTer22
XM_024452822.1:c.-542_-538del	XP_024308590.1:n.-542_-538del
NM_000179.3:c.195_199del MANE Select	NP_000170.1:p.Pro66GlnfsTer22
NM_001281492.2:c.195_199del	NP_001268421.1:p.Pro66GlnfsTer21
NM_001281493.2:c.-542_-538del	NP_001268422.1:n.-542_-538del