Canonical Allele Identifier: CA658795767

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 525655
• ClinVar RCV Id: RCV000629807 ; RCV001526019
• dbSNP Id: rs1553333998
• MyVariant Identifiers: chr2:g.48033934_48033948del (hg19) ; chr2:g.47806795_47806809del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806795_47806809del , CM000664.2:g.47806795_47806809del	GRCh38
NC_000002.11:g.48033934_48033948del , CM000664.1:g.48033934_48033948del	GRCh37
NC_000002.10:g.47887438_47887452del	NCBI36
NG_007111.1:g.28649_28663del , LRG_219:g.28649_28663del
NG_008397.1:g.103869_103883del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3721_3735del (MSH6)	ENSP00000406248.2:p.Ser1241_Thr1245del
ENST00000420813.6:c.3721_3735del (MSH6)	ENSP00000390382.2:p.Ser1241_Thr1245del
ENST00000455383.6:c.3721_3735del (MSH6)	ENSP00000397484.2:p.Ser1241_Thr1245del
ENST00000700004.2:c.3634_3648del (MSH6)	ENSP00000514752.2:p.Ser1212_Thr1216del
ENST00000699999.1:n.4692_4706del (MSH6)
ENST00000700000.1:c.2452_2466del (MSH6)	ENSP00000514749.1:p.Ser818_Thr822del
ENST00000700002.1:c.4024_4038del (MSH6)	ENSP00000514750.1:p.Ser1342_Thr1346del
ENST00000700003.1:c.1473_1487del (MSH6)	ENSP00000514751.1:n.1473_1487del
ENST00000700004.1:c.2791_2805del (MSH6)	ENSP00000514752.1:p.Ser931_Thr935del
ENST00000700005.1:n.2996_3010del (MSH6)
ENST00000700007.1:n.2613_2627del (MSH6)
ENST00000700008.1:n.2280_2294del (MSH6)
ENST00000700009.1:n.2682_2696del (MSH6)
ENST00000700010.1:n.1427_1441del (MSH6)
ENST00000700011.1:n.3312_3326del (MSH6)
ENST00000682451.1:n.3941_3955del (FBXO11)
ENST00000684712.1:n.4203_4217del (FBXO11)
ENST00000234420.11:c.4018_4032del (MSH6) MANE Select	ENSP00000234420.5:p.Ser1340_Thr1344del
ENST00000540021.6:c.3628_3642del (MSH6)	ENSP00000446475.1:p.Ser1210_Thr1214del
ENST00000652107.1:c.3721_3735del (MSH6)	ENSP00000498629.1:p.Ser1241_Thr1245del
ENST00000673637.1:c.3721_3735del (MSH6)	ENSP00000501310.1:p.Ser1241_Thr1245del
ENST00000234420.9:c.4018_4032del (MSH6)	ENSP00000234420.4:p.Ser1340_Thr1344del
ENST00000405808.5:c.169+1388_169+1402del (FBXO11)	ENSP00000385127.1:n.169+1388_169+1402del
ENST00000434234.5:c.*124+1187_*124+1201del (FBXO11)	ENSP00000402692.1:n.*124+1187_*124+1201del
ENST00000445503.5:c.*3365_*3379del (MSH6)	ENSP00000405294.1:n.*3365_*3379del
ENST00000465204.5:n.3103_3117del (FBXO11)
ENST00000538136.1:c.3112_3126del (MSH6)	ENSP00000438580.1:p.Ser1038_Thr1042del
ENST00000540021.5:c.3628_3642del (MSH6)	ENSP00000446475.1:p.Ser1210_Thr1214del
ENST00000614496.4:c.3112_3126del (MSH6)	ENSP00000477844.1:p.Ser1038_Thr1042del
ENST00000622629.4:c.919_933del (MSH6)	ENSP00000482078.1:p.Ser307_Thr311del
NM_000179.2:c.4018_4032del , LRG_219t1:c.4018_4032del (MSH6)	NP_000170.1:p.Ser1340_Thr1344del
NM_001281492.1:c.3628_3642del (MSH6)	NP_001268421.1:p.Ser1210_Thr1214del
NM_001281493.1:c.3112_3126del (MSH6)	NP_001268422.1:p.Ser1038_Thr1042del
NM_001281494.1:c.3112_3126del (MSH6)	NP_001268423.1:p.Ser1038_Thr1042del
XM_005264271.1:c.3721_3735del (MSH6)	XP_005264328.1:p.Ser1241_Thr1245del
XM_011532798.1:c.3835_3849del (MSH6)	XP_011531100.1:p.Ser1279_Thr1283del
XM_011532799.1:c.3721_3735del (MSH6)	XP_011531101.1:p.Ser1241_Thr1245del
XM_011532800.1:c.3721_3735del (MSH6)	XP_011531102.1:p.Ser1241_Thr1245del
XM_024452819.1:c.4111_4125del (MSH6)	XP_024308587.1:p.Ser1371_Thr1375del
XM_024452820.1:c.3928_3942del (MSH6)	XP_024308588.1:p.Ser1310_Thr1314del
XM_024452821.1:c.3814_3828del (MSH6)	XP_024308589.1:p.Ser1272_Thr1276del
XM_024452822.1:c.3205_3219del (MSH6)	XP_024308590.1:p.Ser1069_Thr1073del
NM_000179.3:c.4018_4032del (MSH6) MANE Select	NP_000170.1:p.Ser1340_Thr1344del
NM_001281492.2:c.3628_3642del (MSH6)	NP_001268421.1:p.Ser1210_Thr1214del
NM_001281493.2:c.3112_3126del (MSH6)	NP_001268422.1:p.Ser1038_Thr1042del
NM_001281494.2:c.3112_3126del (MSH6)	NP_001268423.1:p.Ser1038_Thr1042del