Canonical Allele Identifier: CA1030294213

Gene: MSH6 FBXO11

Linked Data

• dbSNP Id: rs1669524994
• gnomAD v3: 2-47800880-CCA-C
• gnomAD v4: 2-47800880-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800881_47800882del , CM000664.2:g.47800881_47800882del	GRCh38
NC_000002.11:g.48028020_48028021del , CM000664.1:g.48028020_48028021del	GRCh37
NC_000002.10:g.47881524_47881525del	NCBI36
NG_007111.1:g.22735_22736del , LRG_219:g.22735_22736del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.2601_2602del (MSH6)	ENSP00000406248.2:p.Ile868SerfsTer7
ENST00000420813.6:c.2601_2602del (MSH6)	ENSP00000390382.2:p.Ile868SerfsTer7
ENST00000455383.6:c.2601_2602del (MSH6)	ENSP00000397484.2:p.Ile868SerfsTer7
ENST00000700004.2:c.2898_2899del (MSH6)	ENSP00000514752.2:p.Ile967SerfsTer7
ENST00000699999.1:n.2982_2983del (MSH6)
ENST00000700000.1:c.1606+1292_1606+1293del (MSH6)	ENSP00000514749.1:n.1606+1292_1606+1293de...
ENST00000700002.1:c.2904_2905del (MSH6)	ENSP00000514750.1:p.Ile969SerfsTer7
ENST00000700003.1:c.628-2539_628-2538del (MSH6)	ENSP00000514751.1:n.628-2539_628-2538del
ENST00000700004.1:c.2055_2056del (MSH6)	ENSP00000514752.1:p.Ile686SerfsTer7
ENST00000234420.11:c.2898_2899del (MSH6) MANE Select	ENSP00000234420.5:p.Ile967SerfsTer7
ENST00000540021.6:c.2508_2509del (MSH6)	ENSP00000446475.1:p.Ile837SerfsTer7
ENST00000652107.1:c.2601_2602del (MSH6)	ENSP00000498629.1:p.Ile868SerfsTer7
ENST00000673637.1:c.2601_2602del (MSH6)	ENSP00000501310.1:p.Ile868SerfsTer7
ENST00000234420.9:c.2898_2899del (MSH6)	ENSP00000234420.4:p.Ile967SerfsTer7
ENST00000405808.5:c.169+7313_169+7314del (FBXO11)	ENSP00000385127.1:n.169+7313_169+7314del
ENST00000434234.5:c.*124+7112_*124+7113del (FBXO11)	ENSP00000402692.1:n.*124+7112_*124+7113de...
ENST00000445503.5:c.*2245_*2246del (MSH6)	ENSP00000405294.1:n.*2245_*2246del
ENST00000538136.1:c.1992_1993del (MSH6)	ENSP00000438580.1:p.Ile665SerfsTer7
ENST00000540021.5:c.2508_2509del (MSH6)	ENSP00000446475.1:p.Ile837SerfsTer7
ENST00000614496.4:c.1992_1993del (MSH6)	ENSP00000477844.1:p.Ile665SerfsTer7
ENST00000616033.4:c.2895_2896del (MSH6)	ENSP00000480261.1:p.Ile966SerfsTer7
ENST00000622629.4:c.-199_-198del (MSH6)	ENSP00000482078.1:n.-199_-198del
NM_000179.2:c.2898_2899del , LRG_219t1:c.2898_2899del (MSH6)	NP_000170.1:p.Ile967SerfsTer7
NM_001281492.1:c.2508_2509del (MSH6)	NP_001268421.1:p.Ile837SerfsTer7
NM_001281493.1:c.1992_1993del (MSH6)	NP_001268422.1:p.Ile665SerfsTer7
NM_001281494.1:c.1992_1993del (MSH6)	NP_001268423.1:p.Ile665SerfsTer7
XM_005264271.1:c.2601_2602del (MSH6)	XP_005264328.1:p.Ile868SerfsTer7
XM_011532798.1:c.2715_2716del (MSH6)	XP_011531100.1:p.Ile906SerfsTer7
XM_011532799.1:c.2601_2602del (MSH6)	XP_011531101.1:p.Ile868SerfsTer7
XM_011532800.1:c.2601_2602del (MSH6)	XP_011531102.1:p.Ile868SerfsTer7
XM_024452819.1:c.2898_2899del (MSH6)	XP_024308587.1:p.Ile967SerfsTer7
XM_024452820.1:c.2715_2716del (MSH6)	XP_024308588.1:p.Ile906SerfsTer7
XM_024452821.1:c.2601_2602del (MSH6)	XP_024308589.1:p.Ile868SerfsTer7
XM_024452822.1:c.1992_1993del (MSH6)	XP_024308590.1:p.Ile665SerfsTer7
NM_000179.3:c.2898_2899del (MSH6) MANE Select	NP_000170.1:p.Ile967SerfsTer7
NM_001281492.2:c.2508_2509del (MSH6)	NP_001268421.1:p.Ile837SerfsTer7
NM_001281493.2:c.1992_1993del (MSH6)	NP_001268422.1:p.Ile665SerfsTer7
NM_001281494.2:c.1992_1993del (MSH6)	NP_001268423.1:p.Ile665SerfsTer7