Canonical Allele Identifier: CA330501

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89348
• ClinVar RCV Id: RCV000074813
• MyVariant Identifiers: chr2:g.48030126_48032394del (hg19) ; chr2:g.47802987_47805255del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47802987_47805255del , CM000664.2:g.47802987_47805255del	GRCh38
NC_000002.11:g.48030126_48032394del , CM000664.1:g.48030126_48032394del	GRCh37
NC_000002.10:g.47883630_47885898del	NCBI36
NG_007111.1:g.24841_27109del , LRG_219:g.24841_27109del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2876-433_3259+228del (MSH6)
ENST00000420813.6:c.2876-433_3259+228del (MSH6)
ENST00000455383.6:c.2876-433_3259+228del (MSH6)
ENST00000700004.2:c.3172+1832_3173-363del (MSH6)	ENSP00000514752.2:n.3172+1832_3173-363del
ENST00000699999.1:n.3257-433_3868del (MSH6)
ENST00000700000.1:c.1607-433_1990+228del (MSH6)
ENST00000700002.1:c.3179-433_3562+228del (MSH6)
ENST00000700003.1:c.628-433_1011+228del (MSH6)
ENST00000700004.1:c.2329+1832_2330-363del (MSH6)	ENSP00000514752.1:n.2329+1832_2330-363del
ENST00000700005.1:n.1591_2407+228del (MSH6)
ENST00000700006.1:n.1588_3856del (MSH6)
ENST00000700007.1:n.745_1789del (MSH6)
ENST00000700008.1:n.319_1363del (MSH6)
ENST00000700009.1:n.318_1362del (MSH6)
ENST00000700010.1:n.297_965+228del (MSH6)
ENST00000700011.1:n.220_2488del (MSH6)
ENST00000234420.11:c.3173-433_3556+228del (MSH6)
ENST00000540021.6:c.2783-433_3166+228del (MSH6)
ENST00000652107.1:c.2876-433_3259+228del (MSH6)
ENST00000673637.1:c.2876-433_3259+228del (MSH6)
ENST00000234420.9:c.3173-433_3556+228del (MSH6)
ENST00000405808.5:c.169+2953_169+5221del (FBXO11)	ENSP00000385127.1:n.169+2953_169+5221del
ENST00000434234.5:c.*124+2752_*124+5020del (FBXO11)	ENSP00000402692.1:n.*124+2752_*124+5020del
ENST00000445503.5:c.*2520-433_*2903+228del (MSH6)
ENST00000538136.1:c.2267-433_2650+228del (MSH6)
ENST00000540021.5:c.2783-433_3166+228del (MSH6)
ENST00000614496.4:c.2267-433_2650+228del (MSH6)
ENST00000622629.4:c.77-433_460+228del (MSH6)
NM_000179.2:c.3173-433_3556+228del , LRG_219t1:c.3173-433_3556+228del (MSH6)
NM_001281492.1:c.2783-433_3166+228del (MSH6)
NM_001281493.1:c.2267-433_2650+228del (MSH6)
NM_001281494.1:c.2267-433_2650+228del (MSH6)
XM_005264271.1:c.2876-433_3259+228del (MSH6)
XM_011532798.1:c.2990-433_3373+228del (MSH6)
XM_011532799.1:c.2876-433_3259+228del (MSH6)
XM_011532800.1:c.2876-433_3259+228del (MSH6)
XM_024452819.1:c.3173-433_3556+228del (MSH6)
XM_024452820.1:c.2990-433_3373+228del (MSH6)
XM_024452821.1:c.2876-433_3259+228del (MSH6)
XM_024452822.1:c.2267-433_2650+228del (MSH6)
NM_000179.3:c.3173-433_3556+228del (MSH6)
NM_001281492.2:c.2783-433_3166+228del (MSH6)
NM_001281493.2:c.2267-433_2650+228del (MSH6)
NM_001281494.2:c.2267-433_2650+228del (MSH6)