Canonical Allele Identifier: CA658655722

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 485876
• ClinVar RCV Id: RCV000571078
• dbSNP Id: rs1553332604
• gnomAD v4: 2-47805617-GGTGAAA-G
• MyVariant Identifiers: chr2:g.48032759_48032764del (hg19) ; chr2:g.47805620_47805625del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805620_47805625del , CM000664.2:g.47805620_47805625del	GRCh38
NC_000002.11:g.48032759_48032764del , CM000664.1:g.48032759_48032764del	GRCh37
NC_000002.10:g.47886263_47886268del	NCBI36
NG_007111.1:g.27474_27479del , LRG_219:g.27474_27479del
NG_008397.1:g.105053_105058del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3262_3267del (MSH6)	ENSP00000406248.2:p.Glu1088_Ser1089del
ENST00000420813.6:c.3262_3267del (MSH6)	ENSP00000390382.2:p.Glu1088_Ser1089del
ENST00000455383.6:c.3262_3267del (MSH6)	ENSP00000397484.2:p.Glu1088_Ser1089del
ENST00000700004.2:c.3175_3180del (MSH6)	ENSP00000514752.2:p.Glu1059_Ser1060del
ENST00000699999.1:n.4233_4238del (MSH6)
ENST00000700000.1:c.1993_1998del (MSH6)	ENSP00000514749.1:p.Glu665_Ser666del
ENST00000700002.1:c.3565_3570del (MSH6)	ENSP00000514750.1:p.Glu1189_Ser1190del
ENST00000700003.1:c.1014_1019del (MSH6)	ENSP00000514751.1:n.1014_1019del
ENST00000700004.1:c.2332_2337del (MSH6)	ENSP00000514752.1:p.Glu778_Ser779del
ENST00000700005.1:n.2410_2415del (MSH6)
ENST00000700006.1:n.4221_4226del (MSH6)
ENST00000700007.1:n.2154_2159del (MSH6)
ENST00000700008.1:n.1728_1733del (MSH6)
ENST00000700009.1:n.1727_1732del (MSH6)
ENST00000700010.1:n.968_973del (MSH6)
ENST00000700011.1:n.2853_2858del (MSH6)
ENST00000234420.11:c.3559_3564del (MSH6) MANE Select	ENSP00000234420.5:p.Glu1187_Ser1188del
ENST00000540021.6:c.3169_3174del (MSH6)	ENSP00000446475.1:p.Glu1057_Ser1058del
ENST00000652107.1:c.3262_3267del (MSH6)	ENSP00000498629.1:p.Glu1088_Ser1089del
ENST00000673637.1:c.3262_3267del (MSH6)	ENSP00000501310.1:p.Glu1088_Ser1089del
ENST00000234420.9:c.3559_3564del (MSH6)	ENSP00000234420.4:p.Glu1187_Ser1188del
ENST00000405808.5:c.169+2572_169+2577del (FBXO11)	ENSP00000385127.1:n.169+2572_169+2577del
ENST00000434234.5:c.*124+2371_*124+2376del (FBXO11)	ENSP00000402692.1:n.*124+2371_*124+2376del
ENST00000445503.5:c.*2906_*2911del (MSH6)	ENSP00000405294.1:n.*2906_*2911del
ENST00000538136.1:c.2653_2658del (MSH6)	ENSP00000438580.1:p.Glu885_Ser886del
ENST00000540021.5:c.3169_3174del (MSH6)	ENSP00000446475.1:p.Glu1057_Ser1058del
ENST00000614496.4:c.2653_2658del (MSH6)	ENSP00000477844.1:p.Glu885_Ser886del
ENST00000622629.4:c.463_468del (MSH6)	ENSP00000482078.1:p.Glu155_Ser156del
NM_000179.2:c.3559_3564del , LRG_219t1:c.3559_3564del (MSH6)	NP_000170.1:p.Glu1187_Ser1188del
NM_001281492.1:c.3169_3174del (MSH6)	NP_001268421.1:p.Glu1057_Ser1058del
NM_001281493.1:c.2653_2658del (MSH6)	NP_001268422.1:p.Glu885_Ser886del
NM_001281494.1:c.2653_2658del (MSH6)	NP_001268423.1:p.Glu885_Ser886del
XM_005264271.1:c.3262_3267del (MSH6)	XP_005264328.1:p.Glu1088_Ser1089del
XM_011532798.1:c.3376_3381del (MSH6)	XP_011531100.1:p.Glu1126_Ser1127del
XM_011532799.1:c.3262_3267del (MSH6)	XP_011531101.1:p.Glu1088_Ser1089del
XM_011532800.1:c.3262_3267del (MSH6)	XP_011531102.1:p.Glu1088_Ser1089del
XM_024452819.1:c.3559_3564del (MSH6)	XP_024308587.1:p.Glu1187_Ser1188del
XM_024452820.1:c.3376_3381del (MSH6)	XP_024308588.1:p.Glu1126_Ser1127del
XM_024452821.1:c.3262_3267del (MSH6)	XP_024308589.1:p.Glu1088_Ser1089del
XM_024452822.1:c.2653_2658del (MSH6)	XP_024308590.1:p.Glu885_Ser886del
NM_000179.3:c.3559_3564del (MSH6) MANE Select	NP_000170.1:p.Glu1187_Ser1188del
NM_001281492.2:c.3169_3174del (MSH6)	NP_001268421.1:p.Glu1057_Ser1058del
NM_001281493.2:c.2653_2658del (MSH6)	NP_001268422.1:p.Glu885_Ser886del
NM_001281494.2:c.2653_2658del (MSH6)	NP_001268423.1:p.Glu885_Ser886del