Canonical Allele Identifier: CA658655812

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 479922
• ClinVar RCV Id: RCV000563894 ; RCV000688705 ; RCV003144383
• dbSNP Id: rs1553413717
• MyVariant Identifiers: chr2:g.48027473_48027474del (hg19) ; chr2:g.47800334_47800335del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800334_47800335del , CM000664.2:g.47800334_47800335del	GRCh38
NC_000002.11:g.48027473_48027474del , CM000664.1:g.48027473_48027474del	GRCh37
NC_000002.10:g.47880977_47880978del	NCBI36
NG_007111.1:g.22188_22189del , LRG_219:g.22188_22189del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2054_2055del (MSH6)	ENSP00000406248.2:p.Asn685ThrfsTer5
ENST00000420813.6:c.2054_2055del (MSH6)	ENSP00000390382.2:p.Asn685ThrfsTer5
ENST00000455383.6:c.2054_2055del (MSH6)	ENSP00000397484.2:p.Asn685ThrfsTer5
ENST00000700004.2:c.2351_2352del (MSH6)	ENSP00000514752.2:p.Asn784ThrfsTer5
ENST00000699999.1:n.2435_2436del (MSH6)
ENST00000700000.1:c.1606+745_1606+746del (MSH6)	ENSP00000514749.1:n.1606+745_1606+746del
ENST00000700002.1:c.2357_2358del (MSH6)	ENSP00000514750.1:p.Asn786ThrfsTer5
ENST00000700003.1:c.628-3086_628-3085del (MSH6)	ENSP00000514751.1:n.628-3086_628-3085del
ENST00000700004.1:c.1508_1509del (MSH6)	ENSP00000514752.1:p.Asn503ThrfsTer5
ENST00000234420.11:c.2351_2352del (MSH6) MANE Select	ENSP00000234420.5:p.Asn784ThrfsTer5
ENST00000540021.6:c.1961_1962del (MSH6)	ENSP00000446475.1:p.Asn654ThrfsTer5
ENST00000652107.1:c.2054_2055del (MSH6)	ENSP00000498629.1:p.Asn685ThrfsTer5
ENST00000673637.1:c.2054_2055del (MSH6)	ENSP00000501310.1:p.Asn685ThrfsTer5
ENST00000234420.9:c.2351_2352del (MSH6)	ENSP00000234420.4:p.Asn784ThrfsTer5
ENST00000405808.5:c.169+7860_169+7861del (FBXO11)	ENSP00000385127.1:n.169+7860_169+7861del
ENST00000434234.5:c.*124+7659_*124+7660del (FBXO11)	ENSP00000402692.1:n.*124+7659_*124+7660del
ENST00000445503.5:c.*1698_*1699del (MSH6)	ENSP00000405294.1:n.*1698_*1699del
ENST00000538136.1:c.1445_1446del (MSH6)	ENSP00000438580.1:p.Asn482ThrfsTer5
ENST00000540021.5:c.1961_1962del (MSH6)	ENSP00000446475.1:p.Asn654ThrfsTer5
ENST00000614496.4:c.1445_1446del (MSH6)	ENSP00000477844.1:p.Asn482ThrfsTer5
ENST00000616033.4:c.2348_2349del (MSH6)	ENSP00000480261.1:p.Asn783ThrfsTer5
ENST00000622629.4:c.-746_-745del (MSH6)	ENSP00000482078.1:n.-746_-745del
NM_000179.2:c.2351_2352del , LRG_219t1:c.2351_2352del (MSH6)	NP_000170.1:p.Asn784ThrfsTer5
NM_001281492.1:c.1961_1962del (MSH6)	NP_001268421.1:p.Asn654ThrfsTer5
NM_001281493.1:c.1445_1446del (MSH6)	NP_001268422.1:p.Asn482ThrfsTer5
NM_001281494.1:c.1445_1446del (MSH6)	NP_001268423.1:p.Asn482ThrfsTer5
XM_005264271.1:c.2054_2055del (MSH6)	XP_005264328.1:p.Asn685ThrfsTer5
XM_011532798.1:c.2168_2169del (MSH6)	XP_011531100.1:p.Asn723ThrfsTer5
XM_011532799.1:c.2054_2055del (MSH6)	XP_011531101.1:p.Asn685ThrfsTer5
XM_011532800.1:c.2054_2055del (MSH6)	XP_011531102.1:p.Asn685ThrfsTer5
XM_024452819.1:c.2351_2352del (MSH6)	XP_024308587.1:p.Asn784ThrfsTer5
XM_024452820.1:c.2168_2169del (MSH6)	XP_024308588.1:p.Asn723ThrfsTer5
XM_024452821.1:c.2054_2055del (MSH6)	XP_024308589.1:p.Asn685ThrfsTer5
XM_024452822.1:c.1445_1446del (MSH6)	XP_024308590.1:p.Asn482ThrfsTer5
NM_000179.3:c.2351_2352del (MSH6) MANE Select	NP_000170.1:p.Asn784ThrfsTer5
NM_001281492.2:c.1961_1962del (MSH6)	NP_001268421.1:p.Asn654ThrfsTer5
NM_001281493.2:c.1445_1446del (MSH6)	NP_001268422.1:p.Asn482ThrfsTer5
NM_001281494.2:c.1445_1446del (MSH6)	NP_001268423.1:p.Asn482ThrfsTer5