Canonical Allele Identifier: CA915943961

Linked Data

ClinVar Variation Id: 794154
ClinVar RCV Id: RCV000977389
dbSNP Id: rs754636132

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47805035_47805038del , CM000664.2:g.47805035_47805038del GRCh38
NC_000002.11:g.48032174_48032177del , CM000664.1:g.48032174_48032177del GRCh37
NC_000002.10:g.47885678_47885681del NCBI36
NG_007111.1:g.26889_26892del , LRG_219:g.26889_26892del
NG_008397.1:g.105640_105643del

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3259+8_3259+11del (MSH6) ENSP00000406248.2:n.3259+8_3259+11del
ENST00000420813.6:c.3259+8_3259+11del (MSH6) ENSP00000390382.2:n.3259+8_3259+11del
ENST00000455383.6:c.3259+8_3259+11del (MSH6) ENSP00000397484.2:n.3259+8_3259+11del
ENST00000700004.2:c.3173-583_3173-580del (MSH6) ENSP00000514752.2:n.3173-583_3173-580del
ENST00000699999.1:n.3648_3651del (MSH6)
ENST00000700000.1:c.1990+8_1990+11del (MSH6) ENSP00000514749.1:n.1990+8_1990+11del
ENST00000700002.1:c.3562+8_3562+11del (MSH6) ENSP00000514750.1:n.3562+8_3562+11del
ENST00000700003.1:c.1011+8_1011+11del (MSH6) ENSP00000514751.1:n.1011+8_1011+11del
ENST00000700004.1:c.2330-583_2330-580del (MSH6) ENSP00000514752.1:n.2330-583_2330-580del
ENST00000700005.1:n.2407+8_2407+11del (MSH6)
ENST00000700006.1:n.3636_3639del (MSH6)
ENST00000700007.1:n.1569_1572del (MSH6)
ENST00000700008.1:n.1143_1146del (MSH6)
ENST00000700009.1:n.1142_1145del (MSH6)
ENST00000700010.1:n.965+8_965+11del (MSH6)
ENST00000700011.1:n.2268_2271del (MSH6)
ENST00000234420.11:c.3556+8_3556+11del (MSH6) MANE Select ENSP00000234420.5:n.3556+8_3556+11del
ENST00000540021.6:c.3166+8_3166+11del (MSH6) ENSP00000446475.1:n.3166+8_3166+11del
ENST00000652107.1:c.3259+8_3259+11del (MSH6) ENSP00000498629.1:n.3259+8_3259+11del
ENST00000673637.1:c.3259+8_3259+11del (MSH6) ENSP00000501310.1:n.3259+8_3259+11del
ENST00000234420.9:c.3556+8_3556+11del (MSH6) ENSP00000234420.4:n.3556+8_3556+11del
ENST00000405808.5:c.169+3159_169+3162del (FBXO11) ENSP00000385127.1:n.169+3159_169+3162del
ENST00000434234.5:c.*124+2958_*124+2961del (FBXO11) ENSP00000402692.1:n.*124+2958_*124+2961del
ENST00000445503.5:c.*2903+8_*2903+11del (MSH6) ENSP00000405294.1:n.*2903+8_*2903+11del
ENST00000538136.1:c.2650+8_2650+11del (MSH6) ENSP00000438580.1:n.2650+8_2650+11del
ENST00000540021.5:c.3166+8_3166+11del (MSH6) ENSP00000446475.1:n.3166+8_3166+11del
ENST00000614496.4:c.2650+8_2650+11del (MSH6) ENSP00000477844.1:n.2650+8_2650+11del
ENST00000622629.4:c.460+8_460+11del (MSH6) ENSP00000482078.1:n.460+8_460+11del
NM_000179.2:c.3556+8_3556+11del , LRG_219t1:c.3556+8_3556+11del (MSH6) NP_000170.1:n.3556+8_3556+11del
NM_001281492.1:c.3166+8_3166+11del (MSH6) NP_001268421.1:n.3166+8_3166+11del
NM_001281493.1:c.2650+8_2650+11del (MSH6) NP_001268422.1:n.2650+8_2650+11del
NM_001281494.1:c.2650+8_2650+11del (MSH6) NP_001268423.1:n.2650+8_2650+11del
XM_005264271.1:c.3259+8_3259+11del (MSH6) XP_005264328.1:n.3259+8_3259+11del
XM_011532798.1:c.3373+8_3373+11del (MSH6) XP_011531100.1:n.3373+8_3373+11del
XM_011532799.1:c.3259+8_3259+11del (MSH6) XP_011531101.1:n.3259+8_3259+11del
XM_011532800.1:c.3259+8_3259+11del (MSH6) XP_011531102.1:n.3259+8_3259+11del
XM_024452819.1:c.3556+8_3556+11del (MSH6) XP_024308587.1:n.3556+8_3556+11del
XM_024452820.1:c.3373+8_3373+11del (MSH6) XP_024308588.1:n.3373+8_3373+11del
XM_024452821.1:c.3259+8_3259+11del (MSH6) XP_024308589.1:n.3259+8_3259+11del
XM_024452822.1:c.2650+8_2650+11del (MSH6) XP_024308590.1:n.2650+8_2650+11del
NM_000179.3:c.3556+8_3556+11del (MSH6) MANE Select NP_000170.1:n.3556+8_3556+11del
NM_001281492.2:c.3166+8_3166+11del (MSH6) NP_001268421.1:n.3166+8_3166+11del
NM_001281493.2:c.2650+8_2650+11del (MSH6) NP_001268422.1:n.2650+8_2650+11del
NM_001281494.2:c.2650+8_2650+11del (MSH6) NP_001268423.1:n.2650+8_2650+11del