Canonical Allele Identifier: CA891843281

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 577852
• ClinVar RCV Id: RCV000700703 ; RCV000985847 ; RCV000780486 ; RCV003279022 ; RCV003453485
• dbSNP Id: rs1558393070
• MyVariant Identifiers: chr2:g.48033603_48033616dup (hg19) ; chr2:g.47806464_47806477dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806464_47806477dup , CM000664.2:g.47806464_47806477dup	GRCh38
NC_000002.11:g.48033603_48033616dup , CM000664.1:g.48033603_48033616dup	GRCh37
NC_000002.10:g.47887107_47887120dup	NCBI36
NG_007111.1:g.28318_28331dup , LRG_219:g.28318_28331dup
NG_008397.1:g.104200_104213dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3517_3530dup (MSH6)	ENSP00000406248.2:p.Asp1178LysfsTer?
ENST00000420813.6:c.3517_3530dup (MSH6)	ENSP00000390382.2:p.Asp1178LysfsTer?
ENST00000455383.6:c.3517_3530dup (MSH6)	ENSP00000397484.2:p.Asp1178LysfsTer?
ENST00000700004.2:c.3430_3443dup (MSH6)	ENSP00000514752.2:p.Asp1149LysfsTer?
ENST00000699999.1:n.4488_4501dup (MSH6)
ENST00000700000.1:c.2248_2261dup (MSH6)	ENSP00000514749.1:p.Asp755LysfsTer?
ENST00000700002.1:c.3820_3833dup (MSH6)	ENSP00000514750.1:p.Asp1279LysfsTer?
ENST00000700003.1:c.1269_1282dup (MSH6)	ENSP00000514751.1:n.1269_1282dup
ENST00000700004.1:c.2587_2600dup (MSH6)	ENSP00000514752.1:p.Asp868LysfsTer?
ENST00000700005.1:n.2665_2678dup (MSH6)
ENST00000700006.1:n.4972_4985dup (MSH6)
ENST00000700007.1:n.2409_2422dup (MSH6)
ENST00000700008.1:n.2076_2089dup (MSH6)
ENST00000700009.1:n.2478_2491dup (MSH6)
ENST00000700010.1:n.1223_1236dup (MSH6)
ENST00000700011.1:n.3108_3121dup (MSH6)
ENST00000682451.1:n.4272_4285dup (FBXO11)
ENST00000684712.1:n.4534_4547dup (FBXO11)
ENST00000234420.11:c.3814_3827dup (MSH6) MANE Select	ENSP00000234420.5:p.Asp1277LysfsTer?
ENST00000540021.6:c.3424_3437dup (MSH6)	ENSP00000446475.1:p.Asp1147LysfsTer?
ENST00000652107.1:c.3517_3530dup (MSH6)	ENSP00000498629.1:p.Asp1178LysfsTer?
ENST00000673637.1:c.3517_3530dup (MSH6)	ENSP00000501310.1:p.Asp1178LysfsTer?
ENST00000234420.9:c.3814_3827dup (MSH6)	ENSP00000234420.4:p.Asp1277LysfsTer?
ENST00000405808.5:c.169+1719_169+1732dup (FBXO11)	ENSP00000385127.1:n.169+1719_169+1732dup
ENST00000434234.5:c.*124+1518_*124+1531dup (FBXO11)	ENSP00000402692.1:n.*124+1518_*124+1531dup
ENST00000445503.5:c.*3161_*3174dup (MSH6)	ENSP00000405294.1:n.*3161_*3174dup
ENST00000538136.1:c.2908_2921dup (MSH6)	ENSP00000438580.1:p.Asp975LysfsTer?
ENST00000540021.5:c.3424_3437dup (MSH6)	ENSP00000446475.1:p.Asp1147LysfsTer?
ENST00000614496.4:c.2908_2921dup (MSH6)	ENSP00000477844.1:p.Asp975LysfsTer?
ENST00000622629.4:c.715_728dup (MSH6)	ENSP00000482078.1:p.Asp244LysfsTer?
NM_000179.2:c.3814_3827dup , LRG_219t1:c.3814_3827dup (MSH6)	NP_000170.1:p.Asp1277LysfsTer?
NM_001281492.1:c.3424_3437dup (MSH6)	NP_001268421.1:p.Asp1147LysfsTer?
NM_001281493.1:c.2908_2921dup (MSH6)	NP_001268422.1:p.Asp975LysfsTer?
NM_001281494.1:c.2908_2921dup (MSH6)	NP_001268423.1:p.Asp975LysfsTer?
XM_005264271.1:c.3517_3530dup (MSH6)	XP_005264328.1:p.Asp1178LysfsTer?
XM_011532798.1:c.3631_3644dup (MSH6)	XP_011531100.1:p.Asp1216LysfsTer?
XM_011532799.1:c.3517_3530dup (MSH6)	XP_011531101.1:p.Asp1178LysfsTer?
XM_011532800.1:c.3517_3530dup (MSH6)	XP_011531102.1:p.Asp1178LysfsTer?
XM_024452819.1:c.3907_3920dup (MSH6)	XP_024308587.1:p.Asp1308LysfsTer?
XM_024452820.1:c.3724_3737dup (MSH6)	XP_024308588.1:p.Asp1247LysfsTer?
XM_024452821.1:c.3610_3623dup (MSH6)	XP_024308589.1:p.Asp1209LysfsTer?
XM_024452822.1:c.3001_3014dup (MSH6)	XP_024308590.1:p.Asp1006LysfsTer?
NM_000179.3:c.3814_3827dup (MSH6) MANE Select	NP_000170.1:p.Asp1277LysfsTer?
NM_001281492.2:c.3424_3437dup (MSH6)	NP_001268421.1:p.Asp1147LysfsTer?
NM_001281493.2:c.2908_2921dup (MSH6)	NP_001268422.1:p.Asp975LysfsTer?
NM_001281494.2:c.2908_2921dup (MSH6)	NP_001268423.1:p.Asp975LysfsTer?