Canonical Allele Identifier: CA2499216669

Gene: MLH1

Linked Data

• ClinVar Variation Id: 1049169
• ClinVar RCV Id: RCV001354917
• dbSNP Id: rs2125710594

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36996617_36996710del , CM000665.2:g.36996617_36996710del	GRCh38
NC_000003.11:g.37038108_37038201del , CM000665.1:g.37038108_37038201del	GRCh37
NC_000003.10:g.37013112_37013205del	NCBI36
NG_007109.2:g.8268_8361del , LRG_216:g.8268_8361del
NG_008418.1:g.1595_1688del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.117-2_207+1del
ENST00000429117.6:c.-173-2_-83+1del
ENST00000450420.6:c.117-2_207+1del
ENST00000456676.7:c.117-2_207+1del
ENST00000458009.6:c.117-2_207+1del
ENST00000492474.6:c.-607-2_-517+1del
ENST00000616768.6:c.117-2_207+1del
ENST00000673673.2:c.117-2_207+1del
ENST00000231790.8:c.117-2_207+1del
ENST00000413212.2:c.-607-2_-517+1del
ENST00000432299.6:c.*197-2_*287+1del
ENST00000441265.6:c.-607-2_-517+1del
ENST00000442249.6:n.132-2_222+1del
ENST00000447829.6:c.-173-2_-83+1del
ENST00000476172.6:n.1120-1353_1120-1260del
ENST00000539477.6:c.-515-2_-425+1del
ENST00000673673.1:c.70-2_160+1del
ENST00000673686.1:n.107-2_197+1del
ENST00000673713.1:n.148-2_238+1del
ENST00000673715.1:c.117-2_207+1del
ENST00000673897.1:c.116+2954_116+3047del	ENSP00000501109.1:n.116+2954_116+3047del
ENST00000673899.1:c.117-2_207+1del
ENST00000673947.1:c.*257-2_*347+1del
ENST00000673972.1:c.117-7_*85+1del
ENST00000673990.1:n.107-7_192+1del
ENST00000674019.1:c.-607-2_-517+1del
ENST00000674107.1:n.59-2_149+1del
ENST00000674111.1:c.117-2_207+1del
ENST00000231790.6:c.117-2_207+1del
ENST00000429117.5:c.-173-2_-83+1del
ENST00000432299.5:c.*197-2_*287+1del
ENST00000435176.5:c.-173-2_-83+1del
ENST00000441265.5:c.-515-2_-425+1del
ENST00000442249.5:c.116+2954_116+3047del	ENSP00000387511.1:n.116+2954_116+3047del
ENST00000454028.5:c.117-7_*85+1del
ENST00000455445.6:c.-602-7_-517+1del
ENST00000456676.6:c.92-2_182+1del
ENST00000457004.5:c.117-7_*85+1del
ENST00000458205.6:c.-752-2_-662+1del
ENST00000466900.5:n.44-2_134+1del
ENST00000476172.5:n.239-2_329+1del
ENST00000485889.1:n.121-2_211+1del
ENST00000492474.5:n.140-2_230+1del
ENST00000536378.5:c.-517+2954_-517+3047del	ENSP00000444286.2:n.-517+2954_-517+3047del
ENST00000539477.5:c.-515-2_-425+1del
NM_000249.3:c.117-2_207+1del , LRG_216t1:c.117-2_207+1del
NM_001167617.1:c.-173-2_-83+1del
NM_001167618.1:c.-602-7_-517+1del
NM_001167619.1:c.-515-2_-425+1del
NM_001258271.1:c.117-2_207+1del
NM_001258273.1:c.-517+2954_-517+3047del	NP_001245202.1:n.-517+2954_-517+3047del
NM_001258274.1:c.-752-2_-662+1del
XM_005265161.1:c.117-2_207+1del
XM_005265163.1:c.-607-2_-517+1del
XM_005265164.1:c.-602-7_-517+1del
XM_005265166.1:c.-813-2_-723+1del
XM_011533727.1:c.-710-2_-620+1del
NM_001167617.2:c.-173-2_-83+1del
NM_001167618.2:c.-602-7_-517+1del
NM_001167619.2:c.-515-2_-425+1del
NM_001258274.2:c.-752-2_-662+1del
NM_001354615.1:c.-510-2_-420+1del
NM_001354616.1:c.-510-7_-425+1del
NM_001354617.1:c.-602-7_-517+1del
NM_001354618.1:c.-607-2_-517+1del
NM_001354619.1:c.-607-2_-517+1del
NM_001354620.1:c.-168-7_-83+1del
NM_001354621.1:c.-700-2_-610+1del
NM_001354622.1:c.-813-2_-723+1del
NM_001354623.1:c.-723+2727_-723+2820del	NP_001341552.1:n.-723+2727_-723+2820del
NM_001354624.1:c.-710-2_-620+1del
NM_001354625.1:c.-608-7_-523+1del
NM_001354626.1:c.-705-7_-620+1del
NM_001354627.1:c.-710-2_-620+1del
NM_001354628.1:c.117-2_207+1del
NM_001354629.1:c.117-2_207+1del
NM_001354630.1:c.117-2_207+1del
XM_005265161.2:c.117-2_207+1del
XM_017006450.2:c.-695-7_-610+1del
NM_000249.4:c.117-2_207+1del
NM_001167617.3:c.-173-2_-83+1del
NM_001167618.3:c.-602-7_-517+1del
NM_001167619.3:c.-515-2_-425+1del
NM_001258271.2:c.117-2_207+1del
NM_001258273.2:c.-517+2954_-517+3047del	NP_001245202.1:n.-517+2954_-517+3047del
NM_001258274.3:c.-752-2_-662+1del
NM_001354615.2:c.-510-2_-420+1del
NM_001354616.2:c.-510-7_-425+1del
NM_001354617.2:c.-602-7_-517+1del
NM_001354618.2:c.-607-2_-517+1del
NM_001354619.2:c.-607-2_-517+1del
NM_001354620.2:c.-168-7_-83+1del
NM_001354621.2:c.-700-2_-610+1del
NM_001354622.2:c.-813-2_-723+1del
NM_001354623.2:c.-723+2727_-723+2820del	NP_001341552.1:n.-723+2727_-723+2820del
NM_001354624.2:c.-710-2_-620+1del
NM_001354625.2:c.-608-7_-523+1del
NM_001354626.2:c.-705-7_-620+1del
NM_001354627.2:c.-710-2_-620+1del
NM_001354628.2:c.117-2_207+1del
NM_001354629.2:c.117-2_207+1del
NM_001354630.2:c.117-2_207+1del