Canonical Allele Identifier: CA1139655608

Gene: MSH6

Linked Data

• ClinVar Variation Id: 926791
• ClinVar RCV Id: RCV001189602 ; RCV001192489 ; RCV002560057

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783419_47783420delinsAG , CM000664.2:g.47783419_47783420delinsAG	GRCh38
NC_000002.11:g.48010558_48010559delinsAG , CM000664.1:g.48010558_48010559delinsAG	GRCh37
NC_000002.10:g.47864062_47864063delinsAG	NCBI36
NG_007111.1:g.5273_5274delinsAG , LRG_219:g.5273_5274delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700004.2:c.186_187delinsAG	ENSP00000514752.2:p.Ser63Ala
ENST00000699999.1:n.270_271delinsAG
ENST00000700000.1:c.186_187delinsAG	ENSP00000514749.1:p.Ser63Ala
ENST00000700001.1:n.258_259delinsAG
ENST00000700002.1:c.186_187delinsAG	ENSP00000514750.1:p.Ser63Ala
ENST00000700003.1:c.186_187delinsAG	ENSP00000514751.1:p.Ser63Ala
ENST00000234420.11:c.186_187delinsAG MANE Select	ENSP00000234420.5:p.Ser63Ala
ENST00000540021.6:c.186_187delinsAG	ENSP00000446475.1:p.Ser63Ala
ENST00000652107.1:c.-37-7508_-37-7507delinsAG	ENSP00000498629.1:n.-37-7508_-37-7507delinsAG
ENST00000673637.1:c.-38+188_-38+189delinsAG	ENSP00000501310.1:n.-38+188_-38+189delinsAG
ENST00000673922.1:n.275_276delinsAG
ENST00000234420.9:c.186_187delinsAG	ENSP00000234420.4:p.Ser63Ala
ENST00000445503.5:c.186_187delinsAG	ENSP00000405294.1:p.Ser63Ala
ENST00000456246.1:c.186_187delinsAG	ENSP00000410570.1:p.Ser63Ala
ENST00000493177.1:n.250_251delinsAG
ENST00000540021.5:c.186_187delinsAG	ENSP00000446475.1:p.Ser63Ala
ENST00000606499.1:c.-37-7508_-37-7507delinsAG	ENSP00000475605.1:n.-37-7508_-37-7507delinsAG
ENST00000614496.4:c.-551_-550delinsAG	ENSP00000477844.1:n.-551_-550delinsAG
ENST00000616033.4:c.183_184delinsAG	ENSP00000480261.1:p.Ser62Ala
ENST00000622629.4:c.-2911_-2910delinsAG	ENSP00000482078.1:n.-2911_-2910delinsAG
NM_000179.2:c.186_187delinsAG , LRG_219t1:c.186_187delinsAG	NP_000170.1:p.Ser63Ala
NM_001281492.1:c.186_187delinsAG	NP_001268421.1:p.Ser63Ala
NM_001281493.1:c.-551_-550delinsAG	NP_001268422.1:n.-551_-550delinsAG
XM_011532800.1:c.-38+188_-38+189delinsAG	XP_011531102.1:n.-38+188_-38+189delinsAG
XM_024452819.1:c.186_187delinsAG	XP_024308587.1:p.Ser63Ala
XM_024452822.1:c.-551_-550delinsAG	XP_024308590.1:n.-551_-550delinsAG
NM_000179.3:c.186_187delinsAG MANE Select	NP_000170.1:p.Ser63Ala
NM_001281492.2:c.186_187delinsAG	NP_001268421.1:p.Ser63Ala
NM_001281493.2:c.-551_-550delinsAG	NP_001268422.1:n.-551_-550delinsAG