Canonical Allele Identifier: CA2580066962

Linked Data

ClinVar Variation Id: 1728948
ClinVar RCV Id: RCV002324605

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47803459_47803461del , CM000664.2:g.47803459_47803461del GRCh38
NC_000002.11:g.48030598_48030600del , CM000664.1:g.48030598_48030600del GRCh37
NC_000002.10:g.47884102_47884104del NCBI36
NG_007111.1:g.25313_25315del , LRG_219:g.25313_25315del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.2915_2917del (MSH6) ENSP00000406248.2:p.Asp972del
ENST00000420813.6:c.2915_2917del (MSH6) ENSP00000390382.2:p.Asp972del
ENST00000455383.6:c.2915_2917del (MSH6) ENSP00000397484.2:p.Asp972del
ENST00000700004.2:c.3173-2159_3173-2157del (MSH6) ENSP00000514752.2:n.3173-2159_3173-2157del
ENST00000699999.1:n.3296_3298del (MSH6)
ENST00000700000.1:c.1646_1648del (MSH6) ENSP00000514749.1:p.Asp549del
ENST00000700002.1:c.3218_3220del (MSH6) ENSP00000514750.1:p.Asp1073del
ENST00000700003.1:c.667_669del (MSH6) ENSP00000514751.1:p.Met223del
ENST00000700004.1:c.2330-2159_2330-2157del (MSH6) ENSP00000514752.1:n.2330-2159_2330-2157del
ENST00000700005.1:n.2063_2065del (MSH6)
ENST00000700006.1:n.2060_2062del (MSH6)
ENST00000700007.1:n.1217_1219del (MSH6)
ENST00000700008.1:n.791_793del (MSH6)
ENST00000700009.1:n.790_792del (MSH6)
ENST00000700010.1:n.621_623del (MSH6)
ENST00000700011.1:n.692_694del (MSH6)
ENST00000234420.11:c.3212_3214del (MSH6) MANE Select ENSP00000234420.5:p.Asp1071del
ENST00000540021.6:c.2822_2824del (MSH6) ENSP00000446475.1:p.Asp941del
ENST00000652107.1:c.2915_2917del (MSH6) ENSP00000498629.1:p.Asp972del
ENST00000673637.1:c.2915_2917del (MSH6) ENSP00000501310.1:p.Asp972del
ENST00000234420.9:c.3212_3214del (MSH6) ENSP00000234420.4:p.Asp1071del
ENST00000405808.5:c.169+4736_169+4738del (FBXO11) ENSP00000385127.1:n.169+4736_169+4738del
ENST00000434234.5:c.*124+4535_*124+4537del (FBXO11) ENSP00000402692.1:n.*124+4535_*124+4537del
ENST00000445503.5:c.*2559_*2561del (MSH6) ENSP00000405294.1:n.*2559_*2561del
ENST00000538136.1:c.2306_2308del (MSH6) ENSP00000438580.1:p.Asp769del
ENST00000540021.5:c.2822_2824del (MSH6) ENSP00000446475.1:p.Asp941del
ENST00000614496.4:c.2306_2308del (MSH6) ENSP00000477844.1:p.Asp769del
ENST00000622629.4:c.116_118del (MSH6) ENSP00000482078.1:p.Asp39del
NM_000179.2:c.3212_3214del , LRG_219t1:c.3212_3214del (MSH6) NP_000170.1:p.Asp1071del
NM_001281492.1:c.2822_2824del (MSH6) NP_001268421.1:p.Asp941del
NM_001281493.1:c.2306_2308del (MSH6) NP_001268422.1:p.Asp769del
NM_001281494.1:c.2306_2308del (MSH6) NP_001268423.1:p.Asp769del
XM_005264271.1:c.2915_2917del (MSH6) XP_005264328.1:p.Asp972del
XM_011532798.1:c.3029_3031del (MSH6) XP_011531100.1:p.Asp1010del
XM_011532799.1:c.2915_2917del (MSH6) XP_011531101.1:p.Asp972del
XM_011532800.1:c.2915_2917del (MSH6) XP_011531102.1:p.Asp972del
XM_024452819.1:c.3212_3214del (MSH6) XP_024308587.1:p.Asp1071del
XM_024452820.1:c.3029_3031del (MSH6) XP_024308588.1:p.Asp1010del
XM_024452821.1:c.2915_2917del (MSH6) XP_024308589.1:p.Asp972del
XM_024452822.1:c.2306_2308del (MSH6) XP_024308590.1:p.Asp769del
NM_000179.3:c.3212_3214del (MSH6) MANE Select NP_000170.1:p.Asp1071del
NM_001281492.2:c.2822_2824del (MSH6) NP_001268421.1:p.Asp941del
NM_001281493.2:c.2306_2308del (MSH6) NP_001268422.1:p.Asp769del
NM_001281494.2:c.2306_2308del (MSH6) NP_001268423.1:p.Asp769del