Canonical Allele Identifier: CA645369265

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 428348
• ClinVar RCV Id: RCV000491305 ; RCV003449311 ; RCV004535547
• dbSNP Id: rs1114167733
• MyVariant Identifiers: chr2:g.48027209_48027215del (hg19) ; chr2:g.47800070_47800076del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800070_47800076del , CM000664.2:g.47800070_47800076del	GRCh38
NC_000002.11:g.48027209_48027215del , CM000664.1:g.48027209_48027215del	GRCh37
NC_000002.10:g.47880713_47880719del	NCBI36
NG_007111.1:g.21924_21930del , LRG_219:g.21924_21930del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1790_1796del (MSH6)	ENSP00000406248.2:p.Ile597ArgfsTer?
ENST00000420813.6:c.1790_1796del (MSH6)	ENSP00000390382.2:p.Ile597ArgfsTer?
ENST00000455383.6:c.1790_1796del (MSH6)	ENSP00000397484.2:p.Ile597ArgfsTer?
ENST00000700004.2:c.2087_2093del (MSH6)	ENSP00000514752.2:p.Ile696ArgfsTer?
ENST00000699999.1:n.2171_2177del (MSH6)
ENST00000700000.1:c.1606+481_1606+487del (MSH6)	ENSP00000514749.1:n.1606+481_1606+487del
ENST00000700002.1:c.2093_2099del (MSH6)	ENSP00000514750.1:p.Ile698ArgfsTer?
ENST00000700003.1:c.628-3350_628-3344del (MSH6)	ENSP00000514751.1:n.628-3350_628-3344del
ENST00000700004.1:c.1244_1250del (MSH6)	ENSP00000514752.1:p.Ile415ArgfsTer?
ENST00000234420.11:c.2087_2093del (MSH6) MANE Select	ENSP00000234420.5:p.Ile696ArgfsTer?
ENST00000540021.6:c.1697_1703del (MSH6)	ENSP00000446475.1:p.Ile566ArgfsTer?
ENST00000652107.1:c.1790_1796del (MSH6)	ENSP00000498629.1:p.Ile597ArgfsTer?
ENST00000673637.1:c.1790_1796del (MSH6)	ENSP00000501310.1:p.Ile597ArgfsTer?
ENST00000234420.9:c.2087_2093del (MSH6)	ENSP00000234420.4:p.Ile696ArgfsTer?
ENST00000405808.5:c.169+8120_169+8126del (FBXO11)	ENSP00000385127.1:n.169+8120_169+8126del
ENST00000434234.5:c.*124+7919_*124+7925del (FBXO11)	ENSP00000402692.1:n.*124+7919_*124+7925del
ENST00000445503.5:c.*1434_*1440del (MSH6)	ENSP00000405294.1:n.*1434_*1440del
ENST00000538136.1:c.1181_1187del (MSH6)	ENSP00000438580.1:p.Ile394ArgfsTer?
ENST00000540021.5:c.1697_1703del (MSH6)	ENSP00000446475.1:p.Ile566ArgfsTer?
ENST00000614496.4:c.1181_1187del (MSH6)	ENSP00000477844.1:p.Ile394ArgfsTer?
ENST00000616033.4:c.2084_2090del (MSH6)	ENSP00000480261.1:p.Ile695ArgfsTer?
ENST00000622629.4:c.-1010_-1004del (MSH6)	ENSP00000482078.1:n.-1010_-1004del
NM_000179.2:c.2087_2093del , LRG_219t1:c.2087_2093del (MSH6)	NP_000170.1:p.Ile696ArgfsTer?
NM_001281492.1:c.1697_1703del (MSH6)	NP_001268421.1:p.Ile566ArgfsTer?
NM_001281493.1:c.1181_1187del (MSH6)	NP_001268422.1:p.Ile394ArgfsTer?
NM_001281494.1:c.1181_1187del (MSH6)	NP_001268423.1:p.Ile394ArgfsTer?
XM_005264271.1:c.1790_1796del (MSH6)	XP_005264328.1:p.Ile597ArgfsTer?
XM_011532798.1:c.1904_1910del (MSH6)	XP_011531100.1:p.Ile635ArgfsTer?
XM_011532799.1:c.1790_1796del (MSH6)	XP_011531101.1:p.Ile597ArgfsTer?
XM_011532800.1:c.1790_1796del (MSH6)	XP_011531102.1:p.Ile597ArgfsTer?
XM_024452819.1:c.2087_2093del (MSH6)	XP_024308587.1:p.Ile696ArgfsTer?
XM_024452820.1:c.1904_1910del (MSH6)	XP_024308588.1:p.Ile635ArgfsTer?
XM_024452821.1:c.1790_1796del (MSH6)	XP_024308589.1:p.Ile597ArgfsTer?
XM_024452822.1:c.1181_1187del (MSH6)	XP_024308590.1:p.Ile394ArgfsTer?
NM_000179.3:c.2087_2093del (MSH6) MANE Select	NP_000170.1:p.Ile696ArgfsTer?
NM_001281492.2:c.1697_1703del (MSH6)	NP_001268421.1:p.Ile566ArgfsTer?
NM_001281493.2:c.1181_1187del (MSH6)	NP_001268422.1:p.Ile394ArgfsTer?
NM_001281494.2:c.1181_1187del (MSH6)	NP_001268423.1:p.Ile394ArgfsTer?