Canonical Allele Identifier: CA645369250

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 428307
• ClinVar RCV Id: RCV000491097 ; RCV000540287 ; RCV001580145 ; RCV003144288 ; RCV003449291
• dbSNP Id: rs1114167702
• gnomAD v4: 2-47799553-TAC-T
• MyVariant Identifiers: chr2:g.48026694_48026695del (hg19) ; chr2:g.47799555_47799556del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799555_47799556del , CM000664.2:g.47799555_47799556del	GRCh38
NC_000002.11:g.48026694_48026695del , CM000664.1:g.48026694_48026695del	GRCh37
NC_000002.10:g.47880198_47880199del	NCBI36
NG_007111.1:g.21409_21410del , LRG_219:g.21409_21410del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1275_1276del (MSH6)	ENSP00000406248.2:p.Tyr425Ter
ENST00000420813.6:c.1275_1276del (MSH6)	ENSP00000390382.2:p.Tyr425Ter
ENST00000455383.6:c.1275_1276del (MSH6)	ENSP00000397484.2:p.Tyr425Ter
ENST00000700004.2:c.1572_1573del (MSH6)	ENSP00000514752.2:p.Tyr524Ter
ENST00000699999.1:n.1656_1657del (MSH6)
ENST00000700000.1:c.1572_1573del (MSH6)	ENSP00000514749.1:p.Tyr524Ter
ENST00000700002.1:c.1578_1579del (MSH6)	ENSP00000514750.1:p.Tyr526Ter
ENST00000700003.1:c.627+3492_627+3493del (MSH6)	ENSP00000514751.1:n.627+3492_627+3493del
ENST00000700004.1:c.729_730del (MSH6)	ENSP00000514752.1:p.Tyr243Ter
ENST00000234420.11:c.1572_1573del (MSH6) MANE Select	ENSP00000234420.5:p.Tyr524Ter
ENST00000540021.6:c.1182_1183del (MSH6)	ENSP00000446475.1:p.Tyr394Ter
ENST00000652107.1:c.1275_1276del (MSH6)	ENSP00000498629.1:p.Tyr425Ter
ENST00000673637.1:c.1275_1276del (MSH6)	ENSP00000501310.1:p.Tyr425Ter
ENST00000234420.9:c.1572_1573del (MSH6)	ENSP00000234420.4:p.Tyr524Ter
ENST00000405808.5:c.169+8640_169+8641del (FBXO11)	ENSP00000385127.1:n.169+8640_169+8641del
ENST00000434234.5:c.*124+8439_*124+8440del (FBXO11)	ENSP00000402692.1:n.*124+8439_*124+8440del
ENST00000445503.5:c.*919_*920del (MSH6)	ENSP00000405294.1:n.*919_*920del
ENST00000538136.1:c.666_667del (MSH6)	ENSP00000438580.1:p.Tyr222Ter
ENST00000540021.5:c.1182_1183del (MSH6)	ENSP00000446475.1:p.Tyr394Ter
ENST00000614496.4:c.666_667del (MSH6)	ENSP00000477844.1:p.Tyr222Ter
ENST00000616033.4:c.1569_1570del (MSH6)	ENSP00000480261.1:p.Tyr523Ter
ENST00000622629.4:c.-1525_-1524del (MSH6)	ENSP00000482078.1:n.-1525_-1524del
NM_000179.2:c.1572_1573del , LRG_219t1:c.1572_1573del (MSH6)	NP_000170.1:p.Tyr524Ter
NM_001281492.1:c.1182_1183del (MSH6)	NP_001268421.1:p.Tyr394Ter
NM_001281493.1:c.666_667del (MSH6)	NP_001268422.1:p.Tyr222Ter
NM_001281494.1:c.666_667del (MSH6)	NP_001268423.1:p.Tyr222Ter
XM_005264271.1:c.1275_1276del (MSH6)	XP_005264328.1:p.Tyr425Ter
XM_011532798.1:c.1389_1390del (MSH6)	XP_011531100.1:p.Tyr463Ter
XM_011532799.1:c.1275_1276del (MSH6)	XP_011531101.1:p.Tyr425Ter
XM_011532800.1:c.1275_1276del (MSH6)	XP_011531102.1:p.Tyr425Ter
XM_024452819.1:c.1572_1573del (MSH6)	XP_024308587.1:p.Tyr524Ter
XM_024452820.1:c.1389_1390del (MSH6)	XP_024308588.1:p.Tyr463Ter
XM_024452821.1:c.1275_1276del (MSH6)	XP_024308589.1:p.Tyr425Ter
XM_024452822.1:c.666_667del (MSH6)	XP_024308590.1:p.Tyr222Ter
NM_000179.3:c.1572_1573del (MSH6) MANE Select	NP_000170.1:p.Tyr524Ter
NM_001281492.2:c.1182_1183del (MSH6)	NP_001268421.1:p.Tyr394Ter
NM_001281493.2:c.666_667del (MSH6)	NP_001268422.1:p.Tyr222Ter
NM_001281494.2:c.666_667del (MSH6)	NP_001268423.1:p.Tyr222Ter