Canonical Allele Identifier: CA16617707

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 420268
• ClinVar RCV Id: RCV000482291 ; RCV000561455 ; RCV000697841
• dbSNP Id: rs1064794384
• gnomAD v4: 2-47806270-CTA-C
• MyVariant Identifiers: chr2:g.48033412_48033413del (hg19) ; chr2:g.47806273_47806274del (hg38) ; chr2:g.47806271_47806272del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806273_47806274del , CM000664.2:g.47806273_47806274del	GRCh38
NC_000002.11:g.48033412_48033413del , CM000664.1:g.48033412_48033413del	GRCh37
NC_000002.10:g.47886916_47886917del	NCBI36
NG_007111.1:g.28127_28128del , LRG_219:g.28127_28128del
NG_008397.1:g.104404_104405del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3419_3420del (MSH6)	ENSP00000406248.2:p.Ile1140LysfsTer?
ENST00000420813.6:c.3419_3420del (MSH6)	ENSP00000390382.2:p.Ile1140LysfsTer?
ENST00000455383.6:c.3419_3420del (MSH6)	ENSP00000397484.2:p.Ile1140LysfsTer?
ENST00000700004.2:c.3332_3333del (MSH6)	ENSP00000514752.2:p.Ile1111LysfsTer?
ENST00000699999.1:n.4390_4391del (MSH6)
ENST00000700000.1:c.2150_2151del (MSH6)	ENSP00000514749.1:p.Ile717LysfsTer?
ENST00000700002.1:c.3722_3723del (MSH6)	ENSP00000514750.1:p.Ile1241LysfsTer?
ENST00000700003.1:c.1171_1172del (MSH6)	ENSP00000514751.1:n.1171_1172del
ENST00000700004.1:c.2489_2490del (MSH6)	ENSP00000514752.1:p.Ile830LysfsTer?
ENST00000700005.1:n.2567_2568del (MSH6)
ENST00000700006.1:n.4874_4875del (MSH6)
ENST00000700007.1:n.2311_2312del (MSH6)
ENST00000700008.1:n.1885_1886del (MSH6)
ENST00000700009.1:n.2380_2381del (MSH6)
ENST00000700010.1:n.1125_1126del (MSH6)
ENST00000700011.1:n.3010_3011del (MSH6)
ENST00000682451.1:n.4476_4477del (FBXO11)
ENST00000684712.1:n.4738_4739del (FBXO11)
ENST00000234420.11:c.3716_3717del (MSH6) MANE Select	ENSP00000234420.5:p.Ile1239LysfsTer?
ENST00000540021.6:c.3326_3327del (MSH6)	ENSP00000446475.1:p.Ile1109LysfsTer?
ENST00000652107.1:c.3419_3420del (MSH6)	ENSP00000498629.1:p.Ile1140LysfsTer?
ENST00000673637.1:c.3419_3420del (MSH6)	ENSP00000501310.1:p.Ile1140LysfsTer?
ENST00000234420.9:c.3716_3717del (MSH6)	ENSP00000234420.4:p.Ile1239LysfsTer?
ENST00000405808.5:c.169+1923_169+1924del (FBXO11)	ENSP00000385127.1:n.169+1923_169+1924del
ENST00000434234.5:c.*124+1722_*124+1723del (FBXO11)	ENSP00000402692.1:n.*124+1722_*124+1723de...
ENST00000445503.5:c.*3063_*3064del (MSH6)	ENSP00000405294.1:n.*3063_*3064del
ENST00000538136.1:c.2810_2811del (MSH6)	ENSP00000438580.1:p.Ile937LysfsTer?
ENST00000540021.5:c.3326_3327del (MSH6)	ENSP00000446475.1:p.Ile1109LysfsTer?
ENST00000614496.4:c.2810_2811del (MSH6)	ENSP00000477844.1:p.Ile937LysfsTer?
ENST00000622629.4:c.620_621del (MSH6)	ENSP00000482078.1:p.Ile207LysfsTer13
NM_000179.2:c.3716_3717del , LRG_219t1:c.3716_3717del (MSH6)	NP_000170.1:p.Ile1239LysfsTer?
NM_001281492.1:c.3326_3327del (MSH6)	NP_001268421.1:p.Ile1109LysfsTer?
NM_001281493.1:c.2810_2811del (MSH6)	NP_001268422.1:p.Ile937LysfsTer?
NM_001281494.1:c.2810_2811del (MSH6)	NP_001268423.1:p.Ile937LysfsTer?
XM_005264271.1:c.3419_3420del (MSH6)	XP_005264328.1:p.Ile1140LysfsTer?
XM_011532798.1:c.3533_3534del (MSH6)	XP_011531100.1:p.Ile1178LysfsTer?
XM_011532799.1:c.3419_3420del (MSH6)	XP_011531101.1:p.Ile1140LysfsTer?
XM_011532800.1:c.3419_3420del (MSH6)	XP_011531102.1:p.Ile1140LysfsTer?
XM_024452819.1:c.3716_3717del (MSH6)	XP_024308587.1:p.Ile1239LysfsTer?
XM_024452820.1:c.3533_3534del (MSH6)	XP_024308588.1:p.Ile1178LysfsTer?
XM_024452821.1:c.3419_3420del (MSH6)	XP_024308589.1:p.Ile1140LysfsTer?
XM_024452822.1:c.2810_2811del (MSH6)	XP_024308590.1:p.Ile937LysfsTer?
NM_000179.3:c.3716_3717del (MSH6) MANE Select	NP_000170.1:p.Ile1239LysfsTer?
NM_001281492.2:c.3326_3327del (MSH6)	NP_001268421.1:p.Ile1109LysfsTer?
NM_001281493.2:c.2810_2811del (MSH6)	NP_001268422.1:p.Ile937LysfsTer?
NM_001281494.2:c.2810_2811del (MSH6)	NP_001268423.1:p.Ile937LysfsTer?