Canonical Allele Identifier: CA2496054167

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1034975
• ClinVar RCV Id: RCV001337776
• dbSNP Id: rs1670059017
• gnomAD v4: 2-47806311-TTAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806315_47806317del , CM000664.2:g.47806315_47806317del	GRCh38
NC_000002.11:g.48033454_48033456del , CM000664.1:g.48033454_48033456del	GRCh37
NC_000002.10:g.47886958_47886960del	NCBI36
NG_007111.1:g.28169_28171del , LRG_219:g.28169_28171del
NG_008397.1:g.104362_104364del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3461_3463del (MSH6)	ENSP00000406248.2:p.Val1154del
ENST00000420813.6:c.3461_3463del (MSH6)	ENSP00000390382.2:p.Val1154del
ENST00000455383.6:c.3461_3463del (MSH6)	ENSP00000397484.2:p.Val1154del
ENST00000700004.2:c.3374_3376del (MSH6)	ENSP00000514752.2:p.Val1125del
ENST00000699999.1:n.4432_4434del (MSH6)
ENST00000700000.1:c.2192_2194del (MSH6)	ENSP00000514749.1:p.Val731del
ENST00000700002.1:c.3764_3766del (MSH6)	ENSP00000514750.1:p.Val1255del
ENST00000700003.1:c.1213_1215del (MSH6)	ENSP00000514751.1:n.1213_1215del
ENST00000700004.1:c.2531_2533del (MSH6)	ENSP00000514752.1:p.Val844del
ENST00000700005.1:n.2609_2611del (MSH6)
ENST00000700006.1:n.4916_4918del (MSH6)
ENST00000700007.1:n.2353_2355del (MSH6)
ENST00000700008.1:n.1927_1929del (MSH6)
ENST00000700009.1:n.2422_2424del (MSH6)
ENST00000700010.1:n.1167_1169del (MSH6)
ENST00000700011.1:n.3052_3054del (MSH6)
ENST00000682451.1:n.4434_4436del (FBXO11)
ENST00000684712.1:n.4696_4698del (FBXO11)
ENST00000234420.11:c.3758_3760del (MSH6) MANE Select	ENSP00000234420.5:p.Val1253del
ENST00000540021.6:c.3368_3370del (MSH6)	ENSP00000446475.1:p.Val1123del
ENST00000652107.1:c.3461_3463del (MSH6)	ENSP00000498629.1:p.Val1154del
ENST00000673637.1:c.3461_3463del (MSH6)	ENSP00000501310.1:p.Val1154del
ENST00000234420.9:c.3758_3760del (MSH6)	ENSP00000234420.4:p.Val1253del
ENST00000405808.5:c.169+1881_169+1883del (FBXO11)	ENSP00000385127.1:n.169+1881_169+1883del
ENST00000434234.5:c.*124+1680_*124+1682del (FBXO11)	ENSP00000402692.1:n.*124+1680_*124+1682del
ENST00000445503.5:c.*3105_*3107del (MSH6)	ENSP00000405294.1:n.*3105_*3107del
ENST00000538136.1:c.2852_2854del (MSH6)	ENSP00000438580.1:p.Val951del
ENST00000540021.5:c.3368_3370del (MSH6)	ENSP00000446475.1:p.Val1123del
ENST00000614496.4:c.2852_2854del (MSH6)	ENSP00000477844.1:p.Val951del
ENST00000622629.4:c.660_662del (MSH6)	ENSP00000482078.1:p.Ser220del
NM_000179.2:c.3758_3760del , LRG_219t1:c.3758_3760del (MSH6)	NP_000170.1:p.Val1253del
NM_001281492.1:c.3368_3370del (MSH6)	NP_001268421.1:p.Val1123del
NM_001281493.1:c.2852_2854del (MSH6)	NP_001268422.1:p.Val951del
NM_001281494.1:c.2852_2854del (MSH6)	NP_001268423.1:p.Val951del
XM_005264271.1:c.3461_3463del (MSH6)	XP_005264328.1:p.Val1154del
XM_011532798.1:c.3575_3577del (MSH6)	XP_011531100.1:p.Val1192del
XM_011532799.1:c.3461_3463del (MSH6)	XP_011531101.1:p.Val1154del
XM_011532800.1:c.3461_3463del (MSH6)	XP_011531102.1:p.Val1154del
XM_024452819.1:c.3758_3760del (MSH6)	XP_024308587.1:p.Val1253del
XM_024452820.1:c.3575_3577del (MSH6)	XP_024308588.1:p.Val1192del
XM_024452821.1:c.3461_3463del (MSH6)	XP_024308589.1:p.Val1154del
XM_024452822.1:c.2852_2854del (MSH6)	XP_024308590.1:p.Val951del
NM_000179.3:c.3758_3760del (MSH6) MANE Select	NP_000170.1:p.Val1253del
NM_001281492.2:c.3368_3370del (MSH6)	NP_001268421.1:p.Val1123del
NM_001281493.2:c.2852_2854del (MSH6)	NP_001268422.1:p.Val951del
NM_001281494.2:c.2852_2854del (MSH6)	NP_001268423.1:p.Val951del