Canonical Allele Identifier: CA2580067910

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1791068
• ClinVar RCV Id: RCV002459822

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800408_47800432del , CM000664.2:g.47800408_47800432del	GRCh38
NC_000002.11:g.48027547_48027571del , CM000664.1:g.48027547_48027571del	GRCh37
NC_000002.10:g.47881051_47881075del	NCBI36
NG_007111.1:g.22262_22286del , LRG_219:g.22262_22286del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2128_2152del (MSH6)	ENSP00000406248.2:p.Val710IlefsTer16
ENST00000420813.6:c.2128_2152del (MSH6)	ENSP00000390382.2:p.Val710IlefsTer16
ENST00000455383.6:c.2128_2152del (MSH6)	ENSP00000397484.2:p.Val710IlefsTer16
ENST00000700004.2:c.2425_2449del (MSH6)	ENSP00000514752.2:p.Val809IlefsTer16
ENST00000699999.1:n.2509_2533del (MSH6)
ENST00000700000.1:c.1606+819_1606+843del (MSH6)	ENSP00000514749.1:n.1606+819_1606+843del
ENST00000700002.1:c.2431_2455del (MSH6)	ENSP00000514750.1:p.Val811IlefsTer16
ENST00000700003.1:c.628-3012_628-2988del (MSH6)	ENSP00000514751.1:n.628-3012_628-2988del
ENST00000700004.1:c.1582_1606del (MSH6)	ENSP00000514752.1:p.Val528IlefsTer16
ENST00000234420.11:c.2425_2449del (MSH6) MANE Select	ENSP00000234420.5:p.Val809IlefsTer16
ENST00000540021.6:c.2035_2059del (MSH6)	ENSP00000446475.1:p.Val679IlefsTer16
ENST00000652107.1:c.2128_2152del (MSH6)	ENSP00000498629.1:p.Val710IlefsTer16
ENST00000673637.1:c.2128_2152del (MSH6)	ENSP00000501310.1:p.Val710IlefsTer16
ENST00000234420.9:c.2425_2449del (MSH6)	ENSP00000234420.4:p.Val809IlefsTer16
ENST00000405808.5:c.169+7763_169+7787del (FBXO11)	ENSP00000385127.1:n.169+7763_169+7787del
ENST00000434234.5:c.*124+7562_*124+7586del (FBXO11)	ENSP00000402692.1:n.*124+7562_*124+7586del
ENST00000445503.5:c.*1772_*1796del (MSH6)	ENSP00000405294.1:n.*1772_*1796del
ENST00000538136.1:c.1519_1543del (MSH6)	ENSP00000438580.1:p.Val507IlefsTer16
ENST00000540021.5:c.2035_2059del (MSH6)	ENSP00000446475.1:p.Val679IlefsTer16
ENST00000614496.4:c.1519_1543del (MSH6)	ENSP00000477844.1:p.Val507IlefsTer16
ENST00000616033.4:c.2422_2446del (MSH6)	ENSP00000480261.1:p.Val808IlefsTer16
ENST00000622629.4:c.-672_-648del (MSH6)	ENSP00000482078.1:n.-672_-648del
NM_000179.2:c.2425_2449del , LRG_219t1:c.2425_2449del (MSH6)	NP_000170.1:p.Val809IlefsTer16
NM_001281492.1:c.2035_2059del (MSH6)	NP_001268421.1:p.Val679IlefsTer16
NM_001281493.1:c.1519_1543del (MSH6)	NP_001268422.1:p.Val507IlefsTer16
NM_001281494.1:c.1519_1543del (MSH6)	NP_001268423.1:p.Val507IlefsTer16
XM_005264271.1:c.2128_2152del (MSH6)	XP_005264328.1:p.Val710IlefsTer16
XM_011532798.1:c.2242_2266del (MSH6)	XP_011531100.1:p.Val748IlefsTer16
XM_011532799.1:c.2128_2152del (MSH6)	XP_011531101.1:p.Val710IlefsTer16
XM_011532800.1:c.2128_2152del (MSH6)	XP_011531102.1:p.Val710IlefsTer16
XM_024452819.1:c.2425_2449del (MSH6)	XP_024308587.1:p.Val809IlefsTer16
XM_024452820.1:c.2242_2266del (MSH6)	XP_024308588.1:p.Val748IlefsTer16
XM_024452821.1:c.2128_2152del (MSH6)	XP_024308589.1:p.Val710IlefsTer16
XM_024452822.1:c.1519_1543del (MSH6)	XP_024308590.1:p.Val507IlefsTer16
NM_000179.3:c.2425_2449del (MSH6) MANE Select	NP_000170.1:p.Val809IlefsTer16
NM_001281492.2:c.2035_2059del (MSH6)	NP_001268421.1:p.Val679IlefsTer16
NM_001281493.2:c.1519_1543del (MSH6)	NP_001268422.1:p.Val507IlefsTer16
NM_001281494.2:c.1519_1543del (MSH6)	NP_001268423.1:p.Val507IlefsTer16