Canonical Allele Identifier: CA2573134718

Gene: MSH6

Linked Data

• ClinVar Variation Id: 1365556
• ClinVar RCV Id: RCV001942687 ; RCV004040314
• dbSNP Id: rs2103940834

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783416_47783417delinsAA , CM000664.2:g.47783416_47783417delinsAA	GRCh38
NC_000002.11:g.48010555_48010556delinsAA , CM000664.1:g.48010555_48010556delinsAA	GRCh37
NC_000002.10:g.47864059_47864060delinsAA	NCBI36
NG_007111.1:g.5270_5271delinsAA , LRG_219:g.5270_5271delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700004.2:c.183_184delinsAA	ENSP00000514752.2:p.Arg62Ser
ENST00000699999.1:n.267_268delinsAA
ENST00000700000.1:c.183_184delinsAA	ENSP00000514749.1:p.Arg62Ser
ENST00000700001.1:n.255_256delinsAA
ENST00000700002.1:c.183_184delinsAA	ENSP00000514750.1:p.Arg62Ser
ENST00000700003.1:c.183_184delinsAA	ENSP00000514751.1:p.Arg62Ser
ENST00000234420.11:c.183_184delinsAA MANE Select	ENSP00000234420.5:p.Arg62Ser
ENST00000540021.6:c.183_184delinsAA	ENSP00000446475.1:p.Arg62Ser
ENST00000652107.1:c.-37-7511_-37-7510delinsAA	ENSP00000498629.1:n.-37-7511_-37-7510delinsAA
ENST00000673637.1:c.-38+185_-38+186delinsAA	ENSP00000501310.1:n.-38+185_-38+186delinsAA
ENST00000673922.1:n.272_273delinsAA
ENST00000234420.9:c.183_184delinsAA	ENSP00000234420.4:p.Arg62Ser
ENST00000445503.5:c.183_184delinsAA	ENSP00000405294.1:p.Arg62Ser
ENST00000456246.1:c.183_184delinsAA	ENSP00000410570.1:p.Arg62Ser
ENST00000493177.1:n.247_248delinsAA
ENST00000540021.5:c.183_184delinsAA	ENSP00000446475.1:p.Arg62Ser
ENST00000606499.1:c.-37-7511_-37-7510delinsAA	ENSP00000475605.1:n.-37-7511_-37-7510delinsAA
ENST00000614496.4:c.-554_-553delinsAA	ENSP00000477844.1:n.-554_-553delinsAA
ENST00000616033.4:c.180_181delinsAA	ENSP00000480261.1:p.Arg61Ser
ENST00000622629.4:c.-2914_-2913delinsAA	ENSP00000482078.1:n.-2914_-2913delinsAA
NM_000179.2:c.183_184delinsAA , LRG_219t1:c.183_184delinsAA	NP_000170.1:p.Arg62Ser
NM_001281492.1:c.183_184delinsAA	NP_001268421.1:p.Arg62Ser
NM_001281493.1:c.-554_-553delinsAA	NP_001268422.1:n.-554_-553delinsAA
XM_011532800.1:c.-38+185_-38+186delinsAA	XP_011531102.1:n.-38+185_-38+186delinsAA
XM_024452819.1:c.183_184delinsAA	XP_024308587.1:p.Arg62Ser
XM_024452822.1:c.-554_-553delinsAA	XP_024308590.1:n.-554_-553delinsAA
NM_000179.3:c.183_184delinsAA MANE Select	NP_000170.1:p.Arg62Ser
NM_001281492.2:c.183_184delinsAA	NP_001268421.1:p.Arg62Ser
NM_001281493.2:c.-554_-553delinsAA	NP_001268422.1:n.-554_-553delinsAA