Canonical Allele Identifier: CA3266361814
Community Standard Title: NM_000249.4(MLH1):c.5_100del (p.Ser2Ter)
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993552_36993647del , CM000665.2:g.36993552_36993647del GRCh38
NC_000003.11:g.37035043_37035138del , CM000665.1:g.37035043_37035138del GRCh37
NC_000003.10:g.37010047_37010142del NCBI36
NG_007109.2:g.5203_5298del , LRG_216:g.5203_5298del
NG_008418.1:g.4658_4753del

Transcript Alleles

HGVS Amino-acid Change
NM_000249.4:c.5_100del MANE Select NP_000240.1:p.Ser2Ter
ENST00000231790.8:c.5_100del MANE Select ENSP00000231790.3:p.Ser2Ter
NM_000249.3:c.5_100del , LRG_216t1:c.5_100del NP_000240.1:p.Ser2Ter
NM_001167617.2:c.-512_-417del NP_001161089.1:n.-512_-417del
NM_001167617.3:c.-512_-417del NP_001161089.1:n.-512_-417del
NM_001167618.2:c.-941_-846del NP_001161090.1:n.-941_-846del
NM_001167618.3:c.-941_-846del NP_001161090.1:n.-941_-846del
NM_001167619.2:c.-854_-759del NP_001161091.1:n.-854_-759del
NM_001167619.3:c.-854_-759del NP_001161091.1:n.-854_-759del
NM_001258271.1:c.5_100del NP_001245200.1:p.Ser2Ter
NM_001258271.2:c.5_100del NP_001245200.1:p.Ser2Ter
NM_001258273.1:c.-628_-533del NP_001245202.1:n.-628_-533del
NM_001258273.2:c.-628_-533del NP_001245202.1:n.-628_-533del
NM_001258274.2:c.-1091_-996del NP_001245203.1:n.-1091_-996del
NM_001258274.3:c.-1091_-996del NP_001245203.1:n.-1091_-996del
NM_001354615.1:c.-622_-527del NP_001341544.1:n.-622_-527del
NM_001354615.2:c.-622_-527del NP_001341544.1:n.-622_-527del
NM_001354616.1:c.-622_-527del NP_001341545.1:n.-622_-527del
NM_001354616.2:c.-622_-527del NP_001341545.1:n.-622_-527del
NM_001354617.1:c.-714_-619del NP_001341546.1:n.-714_-619del
NM_001354617.2:c.-714_-619del NP_001341546.1:n.-714_-619del
NM_001354618.1:c.-946_-851del NP_001341547.1:n.-946_-851del
NM_001354618.2:c.-946_-851del NP_001341547.1:n.-946_-851del
NM_001354619.1:c.-1070_-975del NP_001341548.1:n.-1070_-975del
NM_001354619.2:c.-1070_-975del NP_001341548.1:n.-1070_-975del
NM_001354620.1:c.-280_-185del NP_001341549.1:n.-280_-185del
NM_001354620.2:c.-280_-185del NP_001341549.1:n.-280_-185del
NM_001354621.1:c.-1039_-944del NP_001341550.1:n.-1039_-944del
NM_001354621.2:c.-1039_-944del NP_001341550.1:n.-1039_-944del
NM_001354622.1:c.-1152_-1057del NP_001341551.1:n.-1152_-1057del
NM_001354622.2:c.-1152_-1057del NP_001341551.1:n.-1152_-1057del
NM_001354623.1:c.-1061_-966del NP_001341552.1:n.-1061_-966del
NM_001354623.2:c.-1061_-966del NP_001341552.1:n.-1061_-966del
NM_001354624.1:c.-822_-727del NP_001341553.1:n.-822_-727del
NM_001354624.2:c.-822_-727del NP_001341553.1:n.-822_-727del
NM_001354625.1:c.-720_-625del NP_001341554.1:n.-720_-625del
NM_001354625.2:c.-720_-625del NP_001341554.1:n.-720_-625del
NM_001354626.1:c.-817_-722del NP_001341555.1:n.-817_-722del
NM_001354626.2:c.-817_-722del NP_001341555.1:n.-817_-722del
NM_001354627.1:c.-1049_-954del NP_001341556.1:n.-1049_-954del
NM_001354627.2:c.-1049_-954del NP_001341556.1:n.-1049_-954del
NM_001354628.1:c.5_100del NP_001341557.1:p.Ser2Ter
NM_001354628.2:c.5_100del NP_001341557.1:p.Ser2Ter
NM_001354629.1:c.5_100del NP_001341558.1:p.Ser2Ter
NM_001354629.2:c.5_100del NP_001341558.1:p.Ser2Ter
NM_001354630.1:c.5_100del NP_001341559.1:p.Ser2Ter
NM_001354630.2:c.5_100del NP_001341559.1:p.Ser2Ter
ENST00000231790.6:c.5_100del ENSP00000231790.2:p.Ser2Ter
ENST00000413740.2:c.5_100del ENSP00000416476.2:p.Ser2Ter
ENST00000432299.5:c.5_100del ENSP00000416783.1:p.Ser2Ter
ENST00000432299.6:c.5_100del ENSP00000416783.1:p.Ser2Ter
ENST00000442249.5:c.5_100del ENSP00000387511.1:p.Ser2Ter
ENST00000442249.6:n.20_115del
ENST00000450420.6:c.5_100del ENSP00000393006.2:p.Ser2Ter
ENST00000454028.5:c.5_100del ENSP00000392649.1:p.Ser2Ter
ENST00000456676.7:c.5_100del ENSP00000416687.3:p.Ser2Ter
ENST00000457004.5:c.5_100del ENSP00000407773.1:p.Ser2Ter
ENST00000458009.6:c.5_100del ENSP00000411066.2:p.Ser2Ter
ENST00000536378.5:c.-628_-533del ENSP00000444286.2:n.-628_-533del
ENST00000616768.6:c.5_100del ENSP00000480669.3:p.Ser2Ter
ENST00000673673.2:c.5_100del ENSP00000500979.2:p.Ser2Ter
ENST00000673713.1:n.36_131del
ENST00000673715.1:c.5_100del ENSP00000501301.1:p.Ser2Ter
ENST00000673897.1:c.5_100del ENSP00000501109.1:p.Ser2Ter
ENST00000673899.1:c.5_100del ENSP00000501030.1:p.Ser2Ter
ENST00000673947.1:c.5_100del ENSP00000501304.1:p.Ser2Ter
ENST00000673972.1:c.5_100del ENSP00000501281.1:p.Ser2Ter
ENST00000674111.1:c.5_100del ENSP00000501162.1:p.Ser2Ter
XM_005265161.1:c.5_100del XP_005265218.1:p.Ser2Ter
XM_005265161.2:c.5_100del XP_005265218.1:p.Ser2Ter
XM_005265164.1:c.-714_-619del XP_005265221.1:n.-714_-619del
XM_017006450.2:c.-807_-712del XP_016861939.1:n.-807_-712del