Canonical Allele Identifier: CA014056

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89453
• ClinVar RCV Id: RCV000074921 ; RCV001185021 ; RCV003450977
• dbSNP Id: rs587779287
• gnomAD v4: 2-47806279-GTCGTACATTATTT-G
• MyVariant Identifiers: chr2:g.48033421_48033433del (hg19) ; chr2:g.47806282_47806294del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806282_47806294del , CM000664.2:g.47806282_47806294del	GRCh38
NC_000002.11:g.48033421_48033433del , CM000664.1:g.48033421_48033433del	GRCh37
NC_000002.10:g.47886925_47886937del	NCBI36
NG_007111.1:g.28136_28148del , LRG_219:g.28136_28148del
NG_008397.1:g.104384_104396del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3428_3440del (MSH6)	ENSP00000406248.2:p.Arg1143GlnfsTer7
ENST00000420813.6:c.3428_3440del (MSH6)	ENSP00000390382.2:p.Arg1143GlnfsTer7
ENST00000455383.6:c.3428_3440del (MSH6)	ENSP00000397484.2:p.Arg1143GlnfsTer7
ENST00000700004.2:c.3341_3353del (MSH6)	ENSP00000514752.2:p.Arg1114GlnfsTer7
ENST00000699999.1:n.4399_4411del (MSH6)
ENST00000700000.1:c.2159_2171del (MSH6)	ENSP00000514749.1:p.Arg720GlnfsTer7
ENST00000700002.1:c.3731_3743del (MSH6)	ENSP00000514750.1:p.Arg1244GlnfsTer7
ENST00000700003.1:c.1180_1192del (MSH6)	ENSP00000514751.1:n.1180_1192del
ENST00000700004.1:c.2498_2510del (MSH6)	ENSP00000514752.1:p.Arg833GlnfsTer7
ENST00000700005.1:n.2576_2588del (MSH6)
ENST00000700006.1:n.4883_4895del (MSH6)
ENST00000700007.1:n.2320_2332del (MSH6)
ENST00000700008.1:n.1894_1906del (MSH6)
ENST00000700009.1:n.2389_2401del (MSH6)
ENST00000700010.1:n.1134_1146del (MSH6)
ENST00000700011.1:n.3019_3031del (MSH6)
ENST00000682451.1:n.4456_4468del (FBXO11)
ENST00000684712.1:n.4718_4730del (FBXO11)
ENST00000234420.11:c.3725_3737del (MSH6) MANE Select	ENSP00000234420.5:p.Arg1242GlnfsTer7
ENST00000540021.6:c.3335_3347del (MSH6)	ENSP00000446475.1:p.Arg1112GlnfsTer7
ENST00000652107.1:c.3428_3440del (MSH6)	ENSP00000498629.1:p.Arg1143GlnfsTer7
ENST00000673637.1:c.3428_3440del (MSH6)	ENSP00000501310.1:p.Arg1143GlnfsTer7
ENST00000234420.9:c.3725_3737del (MSH6)	ENSP00000234420.4:p.Arg1242GlnfsTer7
ENST00000405808.5:c.169+1903_169+1915del (FBXO11)	ENSP00000385127.1:n.169+1903_169+1915del
ENST00000434234.5:c.*124+1702_*124+1714del (FBXO11)	ENSP00000402692.1:n.*124+1702_*124+1714del
ENST00000445503.5:c.*3072_*3084del (MSH6)	ENSP00000405294.1:n.*3072_*3084del
ENST00000538136.1:c.2819_2831del (MSH6)	ENSP00000438580.1:p.Arg940GlnfsTer7
ENST00000540021.5:c.3335_3347del (MSH6)	ENSP00000446475.1:p.Arg1112GlnfsTer7
ENST00000614496.4:c.2819_2831del (MSH6)	ENSP00000477844.1:p.Arg940GlnfsTer7
ENST00000622629.4:c.629_641del (MSH6)	ENSP00000482078.1:p.Arg210GlnfsTer18
NM_000179.2:c.3725_3737del , LRG_219t1:c.3725_3737del (MSH6)	NP_000170.1:p.Arg1242GlnfsTer7
NM_001281492.1:c.3335_3347del (MSH6)	NP_001268421.1:p.Arg1112GlnfsTer7
NM_001281493.1:c.2819_2831del (MSH6)	NP_001268422.1:p.Arg940GlnfsTer7
NM_001281494.1:c.2819_2831del (MSH6)	NP_001268423.1:p.Arg940GlnfsTer7
XM_005264271.1:c.3428_3440del (MSH6)	XP_005264328.1:p.Arg1143GlnfsTer7
XM_011532798.1:c.3542_3554del (MSH6)	XP_011531100.1:p.Arg1181GlnfsTer7
XM_011532799.1:c.3428_3440del (MSH6)	XP_011531101.1:p.Arg1143GlnfsTer7
XM_011532800.1:c.3428_3440del (MSH6)	XP_011531102.1:p.Arg1143GlnfsTer7
XM_024452819.1:c.3725_3737del (MSH6)	XP_024308587.1:p.Arg1242GlnfsTer7
XM_024452820.1:c.3542_3554del (MSH6)	XP_024308588.1:p.Arg1181GlnfsTer7
XM_024452821.1:c.3428_3440del (MSH6)	XP_024308589.1:p.Arg1143GlnfsTer7
XM_024452822.1:c.2819_2831del (MSH6)	XP_024308590.1:p.Arg940GlnfsTer7
NM_000179.3:c.3725_3737del (MSH6) MANE Select	NP_000170.1:p.Arg1242GlnfsTer7
NM_001281492.2:c.3335_3347del (MSH6)	NP_001268421.1:p.Arg1112GlnfsTer7
NM_001281493.2:c.2819_2831del (MSH6)	NP_001268422.1:p.Arg940GlnfsTer7
NM_001281494.2:c.2819_2831del (MSH6)	NP_001268423.1:p.Arg940GlnfsTer7