Canonical Allele Identifier: CA1139657995

Gene: MLH1

Linked Data

• ClinVar Variation Id: 973417
• ClinVar RCV Id: RCV001250010
• dbSNP Id: rs2085653401

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050633_37050638del , CM000665.2:g.37050633_37050638del	GRCh38
NC_000003.11:g.37092124_37092129del , CM000665.1:g.37092124_37092129del	GRCh37
NC_000003.10:g.37067128_37067133del	NCBI36
NG_007109.2:g.62284_62289del , LRG_216:g.62284_62289del
NG_053016.1:g.131181_131186del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1815_1820del	ENSP00000416476.2:p.Lys606_Ser607del
ENST00000429117.6:c.1957_1962del	ENSP00000407019.2:p.Lys653_Val654del
ENST00000456676.7:c.2044_2049del	ENSP00000416687.3:p.Lys682_Val683del
ENST00000492474.6:c.1528_1533del	ENSP00000518393.1:p.Lys510_Val511del
ENST00000616768.6:c.2158_2163del	ENSP00000480669.3:p.Lys720_Val721del
ENST00000673673.2:c.2086_2091del	ENSP00000500979.2:p.Lys696_Val697del
ENST00000231790.8:c.2251_2256del MANE Select	ENSP00000231790.3:p.Lys751_Val752del
ENST00000413212.2:c.*1169_*1174del	ENSP00000400844.2:n.*1169_*1174del
ENST00000432299.6:c.*2083_*2088del	ENSP00000416783.1:n.*2083_*2088del
ENST00000447829.6:c.*1362_*1367del	ENSP00000399329.2:n.*1362_*1367del
ENST00000539477.6:c.1528_1533del	ENSP00000443665.1:p.Lys510_Val511del
ENST00000616768.5:c.1195_1200del	ENSP00000480669.2:p.Lys399_Val400del
ENST00000673673.1:c.2039_2044del
ENST00000673741.1:n.1285_1290del
ENST00000673889.1:n.1633_1638del
ENST00000673897.1:c.*2043_*2048del	ENSP00000501109.1:n.*2043_*2048del
ENST00000673899.1:c.1519_1524del	ENSP00000501030.1:p.Lys507_Val508del
ENST00000673947.1:c.*2391_*2396del	ENSP00000501304.1:n.*2391_*2396del
ENST00000673972.1:c.*2129_*2134del	ENSP00000501281.1:n.*2129_*2134del
ENST00000674019.1:c.1528_1533del	ENSP00000501081.1:p.Lys510_Val511del
ENST00000674111.1:c.*480_*485del	ENSP00000501162.1:n.*480_*485del
ENST00000674125.1:n.962_967del
ENST00000231790.6:c.2251_2256del	ENSP00000231790.2:p.Lys751_Val752del
ENST00000435176.5:c.1957_1962del	ENSP00000402564.1:p.Lys653_Val654del
ENST00000455445.6:c.1528_1533del	ENSP00000398272.2:p.Lys510_Val511del
ENST00000456676.6:c.2019_2024del
ENST00000458205.6:c.1528_1533del	ENSP00000402667.2:p.Lys510_Val511del
ENST00000536378.5:c.1528_1533del	ENSP00000444286.2:p.Lys510_Val511del
ENST00000539477.5:c.1528_1533del	ENSP00000443665.1:p.Lys510_Val511del
NM_000249.3:c.2251_2256del , LRG_216t1:c.2251_2256del	NP_000240.1:p.Lys751_Val752del
NM_001167617.1:c.1957_1962del	NP_001161089.1:p.Lys653_Val654del
NM_001167618.1:c.1528_1533del	NP_001161090.1:p.Lys510_Val511del
NM_001167619.1:c.1528_1533del	NP_001161091.1:p.Lys510_Val511del
NM_001258271.1:c.2044_2049del	NP_001245200.1:p.Lys682_Val683del
NM_001258273.1:c.1528_1533del	NP_001245202.1:p.Lys510_Val511del
NM_001258274.1:c.1528_1533del	NP_001245203.1:p.Lys510_Val511del
XM_005265161.1:c.2044_2049del	XP_005265218.1:p.Lys682_Val683del
XM_005265163.1:c.1528_1533del	XP_005265220.1:p.Lys510_Val511del
XM_005265164.1:c.1528_1533del	XP_005265221.1:p.Lys510_Val511del
XM_005265166.1:c.1228_1233del	XP_005265223.1:p.Lys410_Val411del
XM_011533727.1:c.1177_1182del	XP_011532029.1:p.Lys393_Val394del
NM_001167617.2:c.1957_1962del	NP_001161089.1:p.Lys653_Val654del
NM_001167618.2:c.1528_1533del	NP_001161090.1:p.Lys510_Val511del
NM_001167619.2:c.1528_1533del	NP_001161091.1:p.Lys510_Val511del
NM_001258274.2:c.1528_1533del	NP_001245203.1:p.Lys510_Val511del
NM_001354615.1:c.1528_1533del	NP_001341544.1:p.Lys510_Val511del
NM_001354616.1:c.1528_1533del	NP_001341545.1:p.Lys510_Val511del
NM_001354617.1:c.1528_1533del	NP_001341546.1:p.Lys510_Val511del
NM_001354618.1:c.1528_1533del	NP_001341547.1:p.Lys510_Val511del
NM_001354619.1:c.1528_1533del	NP_001341548.1:p.Lys510_Val511del
NM_001354620.1:c.1957_1962del	NP_001341549.1:p.Lys653_Val654del
NM_001354621.1:c.1228_1233del	NP_001341550.1:p.Lys410_Val411del
NM_001354622.1:c.1228_1233del	NP_001341551.1:p.Lys410_Val411del
NM_001354623.1:c.1228_1233del	NP_001341552.1:p.Lys410_Val411del
NM_001354624.1:c.1177_1182del	NP_001341553.1:p.Lys393_Val394del
NM_001354625.1:c.1177_1182del	NP_001341554.1:p.Lys393_Val394del
NM_001354626.1:c.1177_1182del	NP_001341555.1:p.Lys393_Val394del
NM_001354627.1:c.1177_1182del	NP_001341556.1:p.Lys393_Val394del
NM_001354628.1:c.2158_2163del	NP_001341557.1:p.Lys720_Val721del
NM_001354629.1:c.2152_2157del	NP_001341558.1:p.Lys718_Val719del
NM_001354630.1:c.2086_2091del	NP_001341559.1:p.Lys696_Val697del
XM_005265161.2:c.2044_2049del	XP_005265218.1:p.Lys682_Val683del
XM_017006450.2:c.1228_1233del	XP_016861939.1:p.Lys410_Val411del
NM_000249.4:c.2251_2256del MANE Select	NP_000240.1:p.Lys751_Val752del
NM_001167617.3:c.1957_1962del	NP_001161089.1:p.Lys653_Val654del
NM_001167618.3:c.1528_1533del	NP_001161090.1:p.Lys510_Val511del
NM_001167619.3:c.1528_1533del	NP_001161091.1:p.Lys510_Val511del
NM_001258271.2:c.2044_2049del	NP_001245200.1:p.Lys682_Val683del
NM_001258273.2:c.1528_1533del	NP_001245202.1:p.Lys510_Val511del
NM_001258274.3:c.1528_1533del	NP_001245203.1:p.Lys510_Val511del
NM_001354615.2:c.1528_1533del	NP_001341544.1:p.Lys510_Val511del
NM_001354616.2:c.1528_1533del	NP_001341545.1:p.Lys510_Val511del
NM_001354617.2:c.1528_1533del	NP_001341546.1:p.Lys510_Val511del
NM_001354618.2:c.1528_1533del	NP_001341547.1:p.Lys510_Val511del
NM_001354619.2:c.1528_1533del	NP_001341548.1:p.Lys510_Val511del
NM_001354620.2:c.1957_1962del	NP_001341549.1:p.Lys653_Val654del
NM_001354621.2:c.1228_1233del	NP_001341550.1:p.Lys410_Val411del
NM_001354622.2:c.1228_1233del	NP_001341551.1:p.Lys410_Val411del
NM_001354623.2:c.1228_1233del	NP_001341552.1:p.Lys410_Val411del
NM_001354624.2:c.1177_1182del	NP_001341553.1:p.Lys393_Val394del
NM_001354625.2:c.1177_1182del	NP_001341554.1:p.Lys393_Val394del
NM_001354626.2:c.1177_1182del	NP_001341555.1:p.Lys393_Val394del
NM_001354627.2:c.1177_1182del	NP_001341556.1:p.Lys393_Val394del
NM_001354628.2:c.2158_2163del	NP_001341557.1:p.Lys720_Val721del
NM_001354629.2:c.2152_2157del	NP_001341558.1:p.Lys718_Val719del
NM_001354630.2:c.2086_2091del	NP_001341559.1:p.Lys696_Val697del