Canonical Allele Identifier: CA2580069523

Gene: MLH1

Linked Data

• ClinVar Variation Id: 1783601
• ClinVar RCV Id: RCV002423473 ; RCV003454310

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36996699_36996729del , CM000665.2:g.36996699_36996729del	GRCh38
NC_000003.11:g.37038190_37038220del , CM000665.1:g.37038190_37038220del	GRCh37
NC_000003.10:g.37013194_37013224del	NCBI36
NG_007109.2:g.8350_8380del , LRG_216:g.8350_8380del
NG_008418.1:g.1577_1607del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.197_207+20del
ENST00000429117.6:c.-93_-83+20del
ENST00000450420.6:c.197_207+20del
ENST00000456676.7:c.197_207+20del
ENST00000458009.6:c.197_207+20del
ENST00000492474.6:c.-527_-517+20del
ENST00000616768.6:c.197_207+20del
ENST00000673673.2:c.197_207+20del
ENST00000231790.8:c.197_207+20del
ENST00000413212.2:c.-527_-517+20del
ENST00000432299.6:c.*277_*287+20del
ENST00000441265.6:c.-527_-517+20del
ENST00000442249.6:n.212_222+20del
ENST00000447829.6:c.-93_-83+20del
ENST00000476172.6:n.1120-1271_1120-1241del
ENST00000539477.6:c.-435_-425+20del
ENST00000673673.1:c.150_160+20del
ENST00000673686.1:n.187_197+20del
ENST00000673713.1:n.228_238+20del
ENST00000673715.1:c.197_207+20del
ENST00000673897.1:c.116+3036_116+3066del	ENSP00000501109.1:n.116+3036_116+3066del
ENST00000673899.1:c.197_207+20del
ENST00000673947.1:c.*337_*347+20del
ENST00000673972.1:c.*75_*85+20del
ENST00000673990.1:n.182_192+20del
ENST00000674019.1:c.-527_-517+20del
ENST00000674107.1:n.139_149+20del
ENST00000674111.1:c.197_207+20del
ENST00000231790.6:c.197_207+20del
ENST00000429117.5:c.-93_-83+20del
ENST00000432299.5:c.*277_*287+20del
ENST00000435176.5:c.-93_-83+20del
ENST00000441265.5:c.-435_-425+20del
ENST00000442249.5:c.116+3036_116+3066del	ENSP00000387511.1:n.116+3036_116+3066del
ENST00000454028.5:c.*75_*85+20del
ENST00000455445.6:c.-527_-517+20del
ENST00000456676.6:c.172_182+20del
ENST00000457004.5:c.*75_*85+20del
ENST00000458205.6:c.-672_-662+20del
ENST00000466900.5:n.124_134+20del
ENST00000476172.5:n.319_329+20del
ENST00000485889.1:n.201_211+20del
ENST00000492474.5:n.220_230+20del
ENST00000536378.5:c.-517+3036_-517+3066del	ENSP00000444286.2:n.-517+3036_-517+3066del
ENST00000539477.5:c.-435_-425+20del
NM_000249.3:c.197_207+20del , LRG_216t1:c.197_207+20del
NM_001167617.1:c.-93_-83+20del
NM_001167618.1:c.-527_-517+20del
NM_001167619.1:c.-435_-425+20del
NM_001258271.1:c.197_207+20del
NM_001258273.1:c.-517+3036_-517+3066del	NP_001245202.1:n.-517+3036_-517+3066del
NM_001258274.1:c.-672_-662+20del
XM_005265161.1:c.197_207+20del
XM_005265163.1:c.-527_-517+20del
XM_005265164.1:c.-527_-517+20del
XM_005265166.1:c.-733_-723+20del
XM_011533727.1:c.-630_-620+20del
NM_001167617.2:c.-93_-83+20del
NM_001167618.2:c.-527_-517+20del
NM_001167619.2:c.-435_-425+20del
NM_001258274.2:c.-672_-662+20del
NM_001354615.1:c.-430_-420+20del
NM_001354616.1:c.-435_-425+20del
NM_001354617.1:c.-527_-517+20del
NM_001354618.1:c.-527_-517+20del
NM_001354619.1:c.-527_-517+20del
NM_001354620.1:c.-93_-83+20del
NM_001354621.1:c.-620_-610+20del
NM_001354622.1:c.-733_-723+20del
NM_001354623.1:c.-723+2809_-723+2839del	NP_001341552.1:n.-723+2809_-723+2839del
NM_001354624.1:c.-630_-620+20del
NM_001354625.1:c.-533_-523+20del
NM_001354626.1:c.-630_-620+20del
NM_001354627.1:c.-630_-620+20del
NM_001354628.1:c.197_207+20del
NM_001354629.1:c.197_207+20del
NM_001354630.1:c.197_207+20del
XM_005265161.2:c.197_207+20del
XM_017006450.2:c.-620_-610+20del
NM_000249.4:c.197_207+20del
NM_001167617.3:c.-93_-83+20del
NM_001167618.3:c.-527_-517+20del
NM_001167619.3:c.-435_-425+20del
NM_001258271.2:c.197_207+20del
NM_001258273.2:c.-517+3036_-517+3066del	NP_001245202.1:n.-517+3036_-517+3066del
NM_001258274.3:c.-672_-662+20del
NM_001354615.2:c.-430_-420+20del
NM_001354616.2:c.-435_-425+20del
NM_001354617.2:c.-527_-517+20del
NM_001354618.2:c.-527_-517+20del
NM_001354619.2:c.-527_-517+20del
NM_001354620.2:c.-93_-83+20del
NM_001354621.2:c.-620_-610+20del
NM_001354622.2:c.-733_-723+20del
NM_001354623.2:c.-723+2809_-723+2839del	NP_001341552.1:n.-723+2809_-723+2839del
NM_001354624.2:c.-630_-620+20del
NM_001354625.2:c.-533_-523+20del
NM_001354626.2:c.-630_-620+20del
NM_001354627.2:c.-630_-620+20del
NM_001354628.2:c.197_207+20del
NM_001354629.2:c.197_207+20del
NM_001354630.2:c.197_207+20del