Canonical Allele Identifier: CA46717203

Gene: MSH6 FBXO11

Linked Data

• dbSNP Id: rs770314674
• gnomAD v2: 2-48032319-TCTC-T
• gnomAD v3: 2-47805180-TCTC-T
• gnomAD v4: 2-47805180-TCTC-T
• MyVariant Identifiers: chr2:g.48032320_48032322del (hg19) ; chr2:g.47805181_47805183del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805181_47805183del , CM000664.2:g.47805181_47805183del	GRCh38
NC_000002.11:g.48032320_48032322del , CM000664.1:g.48032320_48032322del	GRCh37
NC_000002.10:g.47885824_47885826del	NCBI36
NG_007111.1:g.27035_27037del , LRG_219:g.27035_27037del
NG_008397.1:g.105493_105495del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3259+154_3259+156del (MSH6)	ENSP00000406248.2:n.3259+154_3259+156del
ENST00000420813.6:c.3259+154_3259+156del (MSH6)	ENSP00000390382.2:n.3259+154_3259+156del
ENST00000455383.6:c.3259+154_3259+156del (MSH6)	ENSP00000397484.2:n.3259+154_3259+156del
ENST00000700004.2:c.3173-437_3173-435del (MSH6)	ENSP00000514752.2:n.3173-437_3173-435del
ENST00000699999.1:n.3794_3796del (MSH6)
ENST00000700000.1:c.1990+154_1990+156del (MSH6)	ENSP00000514749.1:n.1990+154_1990+156del
ENST00000700002.1:c.3562+154_3562+156del (MSH6)	ENSP00000514750.1:n.3562+154_3562+156del
ENST00000700003.1:c.1011+154_1011+156del (MSH6)	ENSP00000514751.1:n.1011+154_1011+156del
ENST00000700004.1:c.2330-437_2330-435del (MSH6)	ENSP00000514752.1:n.2330-437_2330-435del
ENST00000700005.1:n.2407+154_2407+156del (MSH6)
ENST00000700006.1:n.3782_3784del (MSH6)
ENST00000700007.1:n.1715_1717del (MSH6)
ENST00000700008.1:n.1289_1291del (MSH6)
ENST00000700009.1:n.1288_1290del (MSH6)
ENST00000700010.1:n.965+154_965+156del (MSH6)
ENST00000700011.1:n.2414_2416del (MSH6)
ENST00000234420.11:c.3556+154_3556+156del (MSH6) MANE Select	ENSP00000234420.5:n.3556+154_3556+156del
ENST00000540021.6:c.3166+154_3166+156del (MSH6)	ENSP00000446475.1:n.3166+154_3166+156del
ENST00000652107.1:c.3259+154_3259+156del (MSH6)	ENSP00000498629.1:n.3259+154_3259+156del
ENST00000673637.1:c.3259+154_3259+156del (MSH6)	ENSP00000501310.1:n.3259+154_3259+156del
ENST00000234420.9:c.3556+154_3556+156del (MSH6)	ENSP00000234420.4:n.3556+154_3556+156del
ENST00000405808.5:c.169+3012_169+3014del (FBXO11)	ENSP00000385127.1:n.169+3012_169+3014del
ENST00000434234.5:c.*124+2811_*124+2813del (FBXO11)	ENSP00000402692.1:n.*124+2811_*124+2813del
ENST00000445503.5:c.*2903+154_*2903+156del (MSH6)	ENSP00000405294.1:n.*2903+154_*2903+156del
ENST00000538136.1:c.2650+154_2650+156del (MSH6)	ENSP00000438580.1:n.2650+154_2650+156del
ENST00000540021.5:c.3166+154_3166+156del (MSH6)	ENSP00000446475.1:n.3166+154_3166+156del
ENST00000614496.4:c.2650+154_2650+156del (MSH6)	ENSP00000477844.1:n.2650+154_2650+156del
ENST00000622629.4:c.460+154_460+156del (MSH6)	ENSP00000482078.1:n.460+154_460+156del
NM_000179.2:c.3556+154_3556+156del , LRG_219t1:c.3556+154_3556+156del (MSH6)	NP_000170.1:n.3556+154_3556+156del
NM_001281492.1:c.3166+154_3166+156del (MSH6)	NP_001268421.1:n.3166+154_3166+156del
NM_001281493.1:c.2650+154_2650+156del (MSH6)	NP_001268422.1:n.2650+154_2650+156del
NM_001281494.1:c.2650+154_2650+156del (MSH6)	NP_001268423.1:n.2650+154_2650+156del
XM_005264271.1:c.3259+154_3259+156del (MSH6)	XP_005264328.1:n.3259+154_3259+156del
XM_011532798.1:c.3373+154_3373+156del (MSH6)	XP_011531100.1:n.3373+154_3373+156del
XM_011532799.1:c.3259+154_3259+156del (MSH6)	XP_011531101.1:n.3259+154_3259+156del
XM_011532800.1:c.3259+154_3259+156del (MSH6)	XP_011531102.1:n.3259+154_3259+156del
XM_024452819.1:c.3556+154_3556+156del (MSH6)	XP_024308587.1:n.3556+154_3556+156del
XM_024452820.1:c.3373+154_3373+156del (MSH6)	XP_024308588.1:n.3373+154_3373+156del
XM_024452821.1:c.3259+154_3259+156del (MSH6)	XP_024308589.1:n.3259+154_3259+156del
XM_024452822.1:c.2650+154_2650+156del (MSH6)	XP_024308590.1:n.2650+154_2650+156del
NM_000179.3:c.3556+154_3556+156del (MSH6) MANE Select	NP_000170.1:n.3556+154_3556+156del
NM_001281492.2:c.3166+154_3166+156del (MSH6)	NP_001268421.1:n.3166+154_3166+156del
NM_001281493.2:c.2650+154_2650+156del (MSH6)	NP_001268422.1:n.2650+154_2650+156del
NM_001281494.2:c.2650+154_2650+156del (MSH6)	NP_001268423.1:n.2650+154_2650+156del