Canonical Allele Identifier: CA2702487146
Gene: MLH1 HGNC NCBI

Linked Data

dbSNP Id: rs2125711349
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36996675_36996676insTCTTAACATATTTATTGGACATTTG , CM000665.2:g.36996675_36996676insTCTTAACATATTTATTGGACATTTG GRCh38
NC_000003.11:g.37038166_37038167insTCTTAACATATTTATTGGACATTTG , CM000665.1:g.37038166_37038167insTCTTAACATATTTATTGGACATTTG GRCh37
NC_000003.10:g.37013170_37013171insTCTTAACATATTTATTGGACATTTG NCBI36
NG_007109.2:g.8326_8327insTCTTAACATATTTATTGGACATTTG , LRG_216:g.8326_8327insTCTTAACATATTTATTGGACATTTG
NG_008418.1:g.1629_1630insCAAATGTCCAATAAATATGTTAAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.173_174insTCTTAACATATTTATTGGACATTTG ENSP00000416476.2:p.Leu58PhefsTer29
ENST00000429117.6:c.-117_-116insTCTTAACATATTTATTGGACATTTG ENSP00000407019.2:n.-117_-116insTCTTAACATATTTATTGGACATTTG
ENST00000450420.6:c.173_174insTCTTAACATATTTATTGGACATTTG ENSP00000393006.2:p.Leu58PhefsTer29
ENST00000456676.7:c.173_174insTCTTAACATATTTATTGGACATTTG ENSP00000416687.3:p.Leu58PhefsTer29
ENST00000458009.6:c.173_174insTCTTAACATATTTATTGGACATTTG ENSP00000411066.2:p.Leu58PhefsTer29
ENST00000492474.6:c.-551_-550insTCTTAACATATTTATTGGACATTTG ENSP00000518393.1:n.-551_-550insTCTTAACATATTTATTGGACATTTG
ENST00000616768.6:c.173_174insTCTTAACATATTTATTGGACATTTG ENSP00000480669.3:p.Leu58PhefsTer29
ENST00000673673.2:c.173_174insTCTTAACATATTTATTGGACATTTG ENSP00000500979.2:p.Leu58PhefsTer29
ENST00000231790.8:c.173_174insTCTTAACATATTTATTGGACATTTG MANE Select ENSP00000231790.3:p.Leu58PhefsTer29
ENST00000413212.2:c.-551_-550insTCTTAACATATTTATTGGACATTTG ENSP00000400844.2:n.-551_-550insTCTTAACATATTTATTGGACATTTG
ENST00000432299.6:c.*253_*254insTCTTAACATATTTATTGGACATTTG ENSP00000416783.1:n.*253_*254insTCTTAACATATTTATTGGACATTTG
ENST00000441265.6:c.-551_-550insTCTTAACATATTTATTGGACATTTG ENSP00000398392.2:n.-551_-550insTCTTAACATATTTATTGGACATTTG
ENST00000442249.6:n.188_189insTCTTAACATATTTATTGGACATTTG
ENST00000447829.6:c.-117_-116insTCTTAACATATTTATTGGACATTTG ENSP00000399329.2:n.-117_-116insTCTTAACATATTTATTGGACATTTG
ENST00000476172.6:n.1120-1295_1120-1294insTCTTAACATATTTATTGGACATTTG
ENST00000539477.6:c.-459_-458insTCTTAACATATTTATTGGACATTTG ENSP00000443665.1:n.-459_-458insTCTTAACATATTTATTGGACATTTG
ENST00000673673.1:c.126_127insTCTTAACATATTTATTGGACATTTG
ENST00000673686.1:n.163_164insTCTTAACATATTTATTGGACATTTG
ENST00000673713.1:n.204_205insTCTTAACATATTTATTGGACATTTG
ENST00000673715.1:c.173_174insTCTTAACATATTTATTGGACATTTG ENSP00000501301.1:p.Leu58PhefsTer29
ENST00000673897.1:c.116+3012_116+3013insTCTTAACATATTTATTGGACATTTG ENSP00000501109.1:n.116+3012_116+3013insTCTTAACATATTTATTGGACA...
ENST00000673899.1:c.173_174insTCTTAACATATTTATTGGACATTTG ENSP00000501030.1:p.Leu58PhefsTer29
ENST00000673947.1:c.*313_*314insTCTTAACATATTTATTGGACATTTG ENSP00000501304.1:n.*313_*314insTCTTAACATATTTATTGGACATTTG
ENST00000673972.1:c.*51_*52insTCTTAACATATTTATTGGACATTTG ENSP00000501281.1:n.*51_*52insTCTTAACATATTTATTGGACATTTG
ENST00000673990.1:n.158_159insTCTTAACATATTTATTGGACATTTG
ENST00000674019.1:c.-551_-550insTCTTAACATATTTATTGGACATTTG ENSP00000501081.1:n.-551_-550insTCTTAACATATTTATTGGACATTTG
ENST00000674107.1:n.115_116insTCTTAACATATTTATTGGACATTTG
ENST00000674111.1:c.173_174insTCTTAACATATTTATTGGACATTTG ENSP00000501162.1:p.Leu58PhefsTer29
ENST00000231790.6:c.173_174insTCTTAACATATTTATTGGACATTTG ENSP00000231790.2:p.Leu58PhefsTer29
ENST00000429117.5:c.-117_-116insTCTTAACATATTTATTGGACATTTG ENSP00000407019.1:n.-117_-116insTCTTAACATATTTATTGGACATTTG
ENST00000432299.5:c.*253_*254insTCTTAACATATTTATTGGACATTTG ENSP00000416783.1:n.*253_*254insTCTTAACATATTTATTGGACATTTG
ENST00000435176.5:c.-117_-116insTCTTAACATATTTATTGGACATTTG ENSP00000402564.1:n.-117_-116insTCTTAACATATTTATTGGACATTTG
ENST00000441265.5:c.-459_-458insTCTTAACATATTTATTGGACATTTG ENSP00000398392.1:n.-459_-458insTCTTAACATATTTATTGGACATTTG
ENST00000442249.5:c.116+3012_116+3013insTCTTAACATATTTATTGGACATTTG ENSP00000387511.1:n.116+3012_116+3013insTCTTAACATATTTATTGGACA...
ENST00000454028.5:c.*51_*52insTCTTAACATATTTATTGGACATTTG ENSP00000392649.1:n.*51_*52insTCTTAACATATTTATTGGACATTTG
ENST00000455445.6:c.-551_-550insTCTTAACATATTTATTGGACATTTG ENSP00000398272.2:n.-551_-550insTCTTAACATATTTATTGGACATTTG
ENST00000456676.6:c.148_149insTCTTAACATATTTATTGGACATTTG
ENST00000457004.5:c.*51_*52insTCTTAACATATTTATTGGACATTTG ENSP00000407773.1:n.*51_*52insTCTTAACATATTTATTGGACATTTG
ENST00000458205.6:c.-696_-695insTCTTAACATATTTATTGGACATTTG ENSP00000402667.2:n.-696_-695insTCTTAACATATTTATTGGACATTTG
ENST00000466900.5:n.100_101insTCTTAACATATTTATTGGACATTTG
ENST00000476172.5:n.295_296insTCTTAACATATTTATTGGACATTTG
ENST00000485889.1:n.177_178insTCTTAACATATTTATTGGACATTTG
ENST00000492474.5:n.196_197insTCTTAACATATTTATTGGACATTTG
ENST00000536378.5:c.-517+3012_-517+3013insTCTTAACATATTTATTGGACATTTG ENSP00000444286.2:n.-517+3012_-517+3013insTCTTAACATATTTATTGGA...
ENST00000539477.5:c.-459_-458insTCTTAACATATTTATTGGACATTTG ENSP00000443665.1:n.-459_-458insTCTTAACATATTTATTGGACATTTG
NM_000249.3:c.173_174insTCTTAACATATTTATTGGACATTTG , LRG_216t1:c.173_174insTCTTAACATATTTATTGGACATTTG NP_000240.1:p.Leu58PhefsTer29
NM_001167617.1:c.-117_-116insTCTTAACATATTTATTGGACATTTG NP_001161089.1:n.-117_-116insTCTTAACATATTTATTGGACATTTG
NM_001167618.1:c.-551_-550insTCTTAACATATTTATTGGACATTTG NP_001161090.1:n.-551_-550insTCTTAACATATTTATTGGACATTTG
NM_001167619.1:c.-459_-458insTCTTAACATATTTATTGGACATTTG NP_001161091.1:n.-459_-458insTCTTAACATATTTATTGGACATTTG
NM_001258271.1:c.173_174insTCTTAACATATTTATTGGACATTTG NP_001245200.1:p.Leu58PhefsTer29
NM_001258273.1:c.-517+3012_-517+3013insTCTTAACATATTTATTGGACATTTG NP_001245202.1:n.-517+3012_-517+3013insTCTTAACATATTTATTGGACAT...
NM_001258274.1:c.-696_-695insTCTTAACATATTTATTGGACATTTG NP_001245203.1:n.-696_-695insTCTTAACATATTTATTGGACATTTG
XM_005265161.1:c.173_174insTCTTAACATATTTATTGGACATTTG XP_005265218.1:p.Leu58PhefsTer29
XM_005265163.1:c.-551_-550insTCTTAACATATTTATTGGACATTTG XP_005265220.1:n.-551_-550insTCTTAACATATTTATTGGACATTTG
XM_005265164.1:c.-551_-550insTCTTAACATATTTATTGGACATTTG XP_005265221.1:n.-551_-550insTCTTAACATATTTATTGGACATTTG
XM_005265166.1:c.-757_-756insTCTTAACATATTTATTGGACATTTG XP_005265223.1:n.-757_-756insTCTTAACATATTTATTGGACATTTG
XM_011533727.1:c.-654_-653insTCTTAACATATTTATTGGACATTTG XP_011532029.1:n.-654_-653insTCTTAACATATTTATTGGACATTTG
NM_001167617.2:c.-117_-116insTCTTAACATATTTATTGGACATTTG NP_001161089.1:n.-117_-116insTCTTAACATATTTATTGGACATTTG
NM_001167618.2:c.-551_-550insTCTTAACATATTTATTGGACATTTG NP_001161090.1:n.-551_-550insTCTTAACATATTTATTGGACATTTG
NM_001167619.2:c.-459_-458insTCTTAACATATTTATTGGACATTTG NP_001161091.1:n.-459_-458insTCTTAACATATTTATTGGACATTTG
NM_001258274.2:c.-696_-695insTCTTAACATATTTATTGGACATTTG NP_001245203.1:n.-696_-695insTCTTAACATATTTATTGGACATTTG
NM_001354615.1:c.-454_-453insTCTTAACATATTTATTGGACATTTG NP_001341544.1:n.-454_-453insTCTTAACATATTTATTGGACATTTG
NM_001354616.1:c.-459_-458insTCTTAACATATTTATTGGACATTTG NP_001341545.1:n.-459_-458insTCTTAACATATTTATTGGACATTTG
NM_001354617.1:c.-551_-550insTCTTAACATATTTATTGGACATTTG NP_001341546.1:n.-551_-550insTCTTAACATATTTATTGGACATTTG
NM_001354618.1:c.-551_-550insTCTTAACATATTTATTGGACATTTG NP_001341547.1:n.-551_-550insTCTTAACATATTTATTGGACATTTG
NM_001354619.1:c.-551_-550insTCTTAACATATTTATTGGACATTTG NP_001341548.1:n.-551_-550insTCTTAACATATTTATTGGACATTTG
NM_001354620.1:c.-117_-116insTCTTAACATATTTATTGGACATTTG NP_001341549.1:n.-117_-116insTCTTAACATATTTATTGGACATTTG
NM_001354621.1:c.-644_-643insTCTTAACATATTTATTGGACATTTG NP_001341550.1:n.-644_-643insTCTTAACATATTTATTGGACATTTG
NM_001354622.1:c.-757_-756insTCTTAACATATTTATTGGACATTTG NP_001341551.1:n.-757_-756insTCTTAACATATTTATTGGACATTTG
NM_001354623.1:c.-723+2785_-723+2786insTCTTAACATATTTATTGGACATTTG NP_001341552.1:n.-723+2785_-723+2786insTCTTAACATATTTATTGGACAT...
NM_001354624.1:c.-654_-653insTCTTAACATATTTATTGGACATTTG NP_001341553.1:n.-654_-653insTCTTAACATATTTATTGGACATTTG
NM_001354625.1:c.-557_-556insTCTTAACATATTTATTGGACATTTG NP_001341554.1:n.-557_-556insTCTTAACATATTTATTGGACATTTG
NM_001354626.1:c.-654_-653insTCTTAACATATTTATTGGACATTTG NP_001341555.1:n.-654_-653insTCTTAACATATTTATTGGACATTTG
NM_001354627.1:c.-654_-653insTCTTAACATATTTATTGGACATTTG NP_001341556.1:n.-654_-653insTCTTAACATATTTATTGGACATTTG
NM_001354628.1:c.173_174insTCTTAACATATTTATTGGACATTTG NP_001341557.1:p.Leu58PhefsTer29
NM_001354629.1:c.173_174insTCTTAACATATTTATTGGACATTTG NP_001341558.1:p.Leu58PhefsTer39
NM_001354630.1:c.173_174insTCTTAACATATTTATTGGACATTTG NP_001341559.1:p.Leu58PhefsTer29
XM_005265161.2:c.173_174insTCTTAACATATTTATTGGACATTTG XP_005265218.1:p.Leu58PhefsTer29
XM_017006450.2:c.-644_-643insTCTTAACATATTTATTGGACATTTG XP_016861939.1:n.-644_-643insTCTTAACATATTTATTGGACATTTG
NM_000249.4:c.173_174insTCTTAACATATTTATTGGACATTTG MANE Select NP_000240.1:p.Leu58PhefsTer29
NM_001167617.3:c.-117_-116insTCTTAACATATTTATTGGACATTTG NP_001161089.1:n.-117_-116insTCTTAACATATTTATTGGACATTTG
NM_001167618.3:c.-551_-550insTCTTAACATATTTATTGGACATTTG NP_001161090.1:n.-551_-550insTCTTAACATATTTATTGGACATTTG
NM_001167619.3:c.-459_-458insTCTTAACATATTTATTGGACATTTG NP_001161091.1:n.-459_-458insTCTTAACATATTTATTGGACATTTG
NM_001258271.2:c.173_174insTCTTAACATATTTATTGGACATTTG NP_001245200.1:p.Leu58PhefsTer29
NM_001258273.2:c.-517+3012_-517+3013insTCTTAACATATTTATTGGACATTTG NP_001245202.1:n.-517+3012_-517+3013insTCTTAACATATTTATTGGACAT...
NM_001258274.3:c.-696_-695insTCTTAACATATTTATTGGACATTTG NP_001245203.1:n.-696_-695insTCTTAACATATTTATTGGACATTTG
NM_001354615.2:c.-454_-453insTCTTAACATATTTATTGGACATTTG NP_001341544.1:n.-454_-453insTCTTAACATATTTATTGGACATTTG
NM_001354616.2:c.-459_-458insTCTTAACATATTTATTGGACATTTG NP_001341545.1:n.-459_-458insTCTTAACATATTTATTGGACATTTG
NM_001354617.2:c.-551_-550insTCTTAACATATTTATTGGACATTTG NP_001341546.1:n.-551_-550insTCTTAACATATTTATTGGACATTTG
NM_001354618.2:c.-551_-550insTCTTAACATATTTATTGGACATTTG NP_001341547.1:n.-551_-550insTCTTAACATATTTATTGGACATTTG
NM_001354619.2:c.-551_-550insTCTTAACATATTTATTGGACATTTG NP_001341548.1:n.-551_-550insTCTTAACATATTTATTGGACATTTG
NM_001354620.2:c.-117_-116insTCTTAACATATTTATTGGACATTTG NP_001341549.1:n.-117_-116insTCTTAACATATTTATTGGACATTTG
NM_001354621.2:c.-644_-643insTCTTAACATATTTATTGGACATTTG NP_001341550.1:n.-644_-643insTCTTAACATATTTATTGGACATTTG
NM_001354622.2:c.-757_-756insTCTTAACATATTTATTGGACATTTG NP_001341551.1:n.-757_-756insTCTTAACATATTTATTGGACATTTG
NM_001354623.2:c.-723+2785_-723+2786insTCTTAACATATTTATTGGACATTTG NP_001341552.1:n.-723+2785_-723+2786insTCTTAACATATTTATTGGACAT...
NM_001354624.2:c.-654_-653insTCTTAACATATTTATTGGACATTTG NP_001341553.1:n.-654_-653insTCTTAACATATTTATTGGACATTTG
NM_001354625.2:c.-557_-556insTCTTAACATATTTATTGGACATTTG NP_001341554.1:n.-557_-556insTCTTAACATATTTATTGGACATTTG
NM_001354626.2:c.-654_-653insTCTTAACATATTTATTGGACATTTG NP_001341555.1:n.-654_-653insTCTTAACATATTTATTGGACATTTG
NM_001354627.2:c.-654_-653insTCTTAACATATTTATTGGACATTTG NP_001341556.1:n.-654_-653insTCTTAACATATTTATTGGACATTTG
NM_001354628.2:c.173_174insTCTTAACATATTTATTGGACATTTG NP_001341557.1:p.Leu58PhefsTer29
NM_001354629.2:c.173_174insTCTTAACATATTTATTGGACATTTG NP_001341558.1:p.Leu58PhefsTer39
NM_001354630.2:c.173_174insTCTTAACATATTTATTGGACATTTG NP_001341559.1:p.Leu58PhefsTer29
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