Canonical Allele Identifier: CA891841787

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1049792
• ClinVar RCV Id: RCV001356348 ; RCV003449999
• dbSNP Id: rs2104510085
• gnomAD v4: 2-47805022-TGTCAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805025_47805029del , CM000664.2:g.47805025_47805029del	GRCh38
NC_000002.11:g.48032164_48032168del , CM000664.1:g.48032164_48032168del	GRCh37
NC_000002.10:g.47885668_47885672del	NCBI36
NG_007111.1:g.26879_26883del , LRG_219:g.26879_26883del
NG_008397.1:g.105649_105653del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3257_3259+2del (MSH6)
ENST00000420813.6:c.3257_3259+2del (MSH6)
ENST00000455383.6:c.3257_3259+2del (MSH6)
ENST00000700004.2:c.3173-593_3173-589del (MSH6)	ENSP00000514752.2:n.3173-593_3173-589del
ENST00000699999.1:n.3638_3642del (MSH6)
ENST00000700000.1:c.1988_1990+2del (MSH6)
ENST00000700002.1:c.3560_3562+2del (MSH6)
ENST00000700003.1:c.1009_1011+2del (MSH6)
ENST00000700004.1:c.2330-593_2330-589del (MSH6)	ENSP00000514752.1:n.2330-593_2330-589del
ENST00000700005.1:n.2405_2407+2del (MSH6)
ENST00000700006.1:n.3626_3630del (MSH6)
ENST00000700007.1:n.1559_1563del (MSH6)
ENST00000700008.1:n.1133_1137del (MSH6)
ENST00000700009.1:n.1132_1136del (MSH6)
ENST00000700010.1:n.963_965+2del (MSH6)
ENST00000700011.1:n.2258_2262del (MSH6)
ENST00000234420.11:c.3554_3556+2del (MSH6)
ENST00000540021.6:c.3164_3166+2del (MSH6)
ENST00000652107.1:c.3257_3259+2del (MSH6)
ENST00000673637.1:c.3257_3259+2del (MSH6)
ENST00000234420.9:c.3554_3556+2del (MSH6)
ENST00000405808.5:c.169+3168_169+3172del (FBXO11)	ENSP00000385127.1:n.169+3168_169+3172del
ENST00000434234.5:c.*124+2967_*124+2971del (FBXO11)	ENSP00000402692.1:n.*124+2967_*124+2971del
ENST00000445503.5:c.*2901_*2903+2del (MSH6)
ENST00000538136.1:c.2648_2650+2del (MSH6)
ENST00000540021.5:c.3164_3166+2del (MSH6)
ENST00000614496.4:c.2648_2650+2del (MSH6)
ENST00000622629.4:c.458_460+2del (MSH6)
NM_000179.2:c.3554_3556+2del , LRG_219t1:c.3554_3556+2del (MSH6)
NM_001281492.1:c.3164_3166+2del (MSH6)
NM_001281493.1:c.2648_2650+2del (MSH6)
NM_001281494.1:c.2648_2650+2del (MSH6)
XM_005264271.1:c.3257_3259+2del (MSH6)
XM_011532798.1:c.3371_3373+2del (MSH6)
XM_011532799.1:c.3257_3259+2del (MSH6)
XM_011532800.1:c.3257_3259+2del (MSH6)
XM_024452819.1:c.3554_3556+2del (MSH6)
XM_024452820.1:c.3371_3373+2del (MSH6)
XM_024452821.1:c.3257_3259+2del (MSH6)
XM_024452822.1:c.2648_2650+2del (MSH6)
NM_000179.3:c.3554_3556+2del (MSH6)
NM_001281492.2:c.3164_3166+2del (MSH6)
NM_001281493.2:c.2648_2650+2del (MSH6)
NM_001281494.2:c.2648_2650+2del (MSH6)