Canonical Allele Identifier: CA2830539260
Gene: MCTP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.94870531_94870532insGCAAATTGAACTGCGTGAAAAACTTGTAAACATTTGTAATATATT , CM000667.2:g.94870531_94870532insGCAAATTGAACTGCGTGAAAAACTTGTAAACATTTGTAATATATT GRCh38
NC_000005.9:g.94206236_94206237insGCAAATTGAACTGCGTGAAAAACTTGTAAACATTTGTAATATATT , CM000667.1:g.94206236_94206237insGCAAATTGAACTGCGTGAAAAACTTGTAAACATTTGTAATATATT GRCh37
NC_000005.8:g.94231992_94231993insGCAAATTGAACTGCGTGAAAAACTTGTAAACATTTGTAATATATT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000515393.6:c.2242-32_2242-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA MANE Select ENSP00000424126.1:n.2242-32_2242-31insCAAATGTTTACAAGTTTTTCACG...
ENST00000312216.12:c.1579-32_1579-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA ENSP00000308957.8:n.1579-32_1579-31insCAAATGTTTACAAGTTTTTCACG...
ENST00000429576.6:c.1441-32_1441-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA ENSP00000391639.2:n.1441-32_1441-31insCAAATGTTTACAAGTTTTTCACG...
ENST00000505078.5:c.790-32_790-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA ENSP00000426417.1:n.790-32_790-31insCAAATGTTTACAAGTTTTTCACGCA...
ENST00000505208.5:c.1579-32_1579-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA ENSP00000426438.1:n.1579-32_1579-31insCAAATGTTTACAAGTTTTTCACG...
ENST00000506568.8:c.1045-32_1045-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA ENSP00000426294.3:n.1045-32_1045-31insCAAATGTTTACAAGTTTTTCACG...
ENST00000508509.5:c.1402-32_1402-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA ENSP00000423410.1:n.1402-32_1402-31insCAAATGTTTACAAGTTTTTCACG...
ENST00000512425.5:c.1225-32_1225-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA ENSP00000431075.1:n.1225-32_1225-31insCAAATGTTTACAAGTTTTTCACG...
ENST00000515393.5:c.2242-32_2242-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA ENSP00000424126.1:n.2242-32_2242-31insCAAATGTTTACAAGTTTTTCACG...
NM_001002796.3:c.1579-32_1579-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA NP_001002796.1:n.1579-32_1579-31insCAAATGTTTACAAGTTTTTCACGCAG...
NM_001297777.1:c.1441-32_1441-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA NP_001284706.1:n.1441-32_1441-31insCAAATGTTTACAAGTTTTTCACGCAG...
NM_024717.5:c.2242-32_2242-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA NP_078993.4:n.2242-32_2242-31insCAAATGTTTACAAGTTTTTCACGCAGTTC...
XM_005272082.3:c.1624-32_1624-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_005272139.1:n.1624-32_1624-31insCAAATGTTTACAAGTTTTTCACGCAG...
XM_005272083.3:c.1624-32_1624-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_005272140.1:n.1624-32_1624-31insCAAATGTTTACAAGTTTTTCACGCAG...
XM_005272084.3:c.1546-32_1546-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_005272141.1:n.1546-32_1546-31insCAAATGTTTACAAGTTTTTCACGCAG...
XM_005272086.3:c.1624-32_1624-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_005272143.1:n.1624-32_1624-31insCAAATGTTTACAAGTTTTTCACGCAG...
XM_005272087.3:c.1624-32_1624-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_005272144.1:n.1624-32_1624-31insCAAATGTTTACAAGTTTTTCACGCAG...
XM_005272088.3:c.1486-32_1486-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_005272145.1:n.1486-32_1486-31insCAAATGTTTACAAGTTTTTCACGCAG...
XM_005272090.3:c.1441-32_1441-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_005272147.1:n.1441-32_1441-31insCAAATGTTTACAAGTTTTTCACGCAG...
XM_006714692.2:c.1447-32_1447-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_006714755.1:n.1447-32_1447-31insCAAATGTTTACAAGTTTTTCACGCAG...
XM_011543647.1:c.1585-32_1585-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_011541949.1:n.1585-32_1585-31insCAAATGTTTACAAGTTTTTCACGCAG...
XM_011543648.1:c.1507-32_1507-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_011541950.1:n.1507-32_1507-31insCAAATGTTTACAAGTTTTTCACGCAG...
XM_011543649.1:c.1465-32_1465-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_011541951.1:n.1465-32_1465-31insCAAATGTTTACAAGTTTTTCACGCAG...
XM_011543650.1:c.1225-32_1225-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_011541952.1:n.1225-32_1225-31insCAAATGTTTACAAGTTTTTCACGCAG...
XR_427720.2:n.1999-32_1999-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA
XR_948297.1:n.2000-32_2000-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA
XM_005272082.5:c.1624-32_1624-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_005272139.1:n.1624-32_1624-31insCAAATGTTTACAAGTTTTTCACGCAG...
XM_005272090.4:c.1441-32_1441-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_005272147.1:n.1441-32_1441-31insCAAATGTTTACAAGTTTTTCACGCAG...
XM_006714692.4:c.1447-32_1447-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_006714755.1:n.1447-32_1447-31insCAAATGTTTACAAGTTTTTCACGCAG...
XM_011543649.3:c.1465-32_1465-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_011541951.1:n.1465-32_1465-31insCAAATGTTTACAAGTTTTTCACGCAG...
XM_011543650.2:c.1225-32_1225-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_011541952.1:n.1225-32_1225-31insCAAATGTTTACAAGTTTTTCACGCAG...
XM_017009855.2:c.1426-32_1426-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_016865344.1:n.1426-32_1426-31insCAAATGTTTACAAGTTTTTCACGCAG...
XM_017009856.1:c.1579-32_1579-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_016865345.1:n.1579-32_1579-31insCAAATGTTTACAAGTTTTTCACGCAG...
XM_017009857.1:c.1387-32_1387-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_016865346.1:n.1387-32_1387-31insCAAATGTTTACAAGTTTTTCACGCAG...
XM_017009858.2:c.1348-32_1348-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_016865347.1:n.1348-32_1348-31insCAAATGTTTACAAGTTTTTCACGCAG...
XM_017009859.1:c.1465-32_1465-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_016865348.1:n.1465-32_1465-31insCAAATGTTTACAAGTTTTTCACGCAG...
XM_017009860.1:c.1501-32_1501-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_016865349.1:n.1501-32_1501-31insCAAATGTTTACAAGTTTTTCACGCAG...
XM_017009861.2:c.1327-32_1327-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_016865350.1:n.1327-32_1327-31insCAAATGTTTACAAGTTTTTCACGCAG...
XM_017009862.2:c.1288-32_1288-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_016865351.1:n.1288-32_1288-31insCAAATGTTTACAAGTTTTTCACGCAG...
XM_017009863.1:c.1402-32_1402-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_016865352.1:n.1402-32_1402-31insCAAATGTTTACAAGTTTTTCACGCAG...
XM_017009864.2:c.1327-32_1327-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_016865353.1:n.1327-32_1327-31insCAAATGTTTACAAGTTTTTCACGCAG...
XM_017009865.2:c.1327-32_1327-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA XP_016865354.1:n.1327-32_1327-31insCAAATGTTTACAAGTTTTTCACGCAG...
XR_001742264.2:n.2101-32_2101-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA
XR_001742266.1:n.1604-32_1604-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA
XR_001742267.1:n.1565-32_1565-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA
NM_001002796.5:c.1579-32_1579-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA NP_001002796.1:n.1579-32_1579-31insCAAATGTTTACAAGTTTTTCACGCAG...
NM_001297777.3:c.1441-32_1441-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA NP_001284706.1:n.1441-32_1441-31insCAAATGTTTACAAGTTTTTCACGCAG...
NM_001393535.1:c.2164-32_2164-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA NP_001380464.1:n.2164-32_2164-31insCAAATGTTTACAAGTTTTTCACGCAG...
NM_001393536.1:c.2104-32_2104-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA NP_001380465.1:n.2104-32_2104-31insCAAATGTTTACAAGTTTTTCACGCAG...
NM_001393537.1:c.2065-32_2065-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA NP_001380466.1:n.2065-32_2065-31insCAAATGTTTACAAGTTTTTCACGCAG...
NM_001393538.1:c.1579-32_1579-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA NP_001380467.1:n.1579-32_1579-31insCAAATGTTTACAAGTTTTTCACGCAG...
NM_001393539.1:c.1501-32_1501-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA NP_001380468.1:n.1501-32_1501-31insCAAATGTTTACAAGTTTTTCACGCAG...
NM_001393540.1:c.1579-32_1579-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA NP_001380469.1:n.1579-32_1579-31insCAAATGTTTACAAGTTTTTCACGCAG...
NM_001393541.1:c.1447-32_1447-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA NP_001380470.1:n.1447-32_1447-31insCAAATGTTTACAAGTTTTTCACGCAG...
NM_001393542.1:c.1441-32_1441-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA NP_001380471.1:n.1441-32_1441-31insCAAATGTTTACAAGTTTTTCACGCAG...
NM_001393543.1:c.1441-32_1441-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA NP_001380472.1:n.1441-32_1441-31insCAAATGTTTACAAGTTTTTCACGCAG...
NM_001393544.1:c.1402-32_1402-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA NP_001380473.1:n.1402-32_1402-31insCAAATGTTTACAAGTTTTTCACGCAG...
NM_001393545.1:c.1396-32_1396-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA NP_001380474.1:n.1396-32_1396-31insCAAATGTTTACAAGTTTTTCACGCAG...
NM_001393546.1:c.1480-32_1480-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA NP_001380475.1:n.1480-32_1480-31insCAAATGTTTACAAGTTTTTCACGCAG...
NM_001393547.1:c.1462-32_1462-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA NP_001380476.1:n.1462-32_1462-31insCAAATGTTTACAAGTTTTTCACGCAG...
NM_001393548.1:c.1441-32_1441-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA NP_001380477.1:n.1441-32_1441-31insCAAATGTTTACAAGTTTTTCACGCAG...
NM_001393549.1:c.1579-32_1579-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA NP_001380478.1:n.1579-32_1579-31insCAAATGTTTACAAGTTTTTCACGCAG...
NM_001393550.1:c.1339-32_1339-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA NP_001380479.1:n.1339-32_1339-31insCAAATGTTTACAAGTTTTTCACGCAG...
NM_001393551.1:c.510+69561_510+69562insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA NP_001380480.1:n.510+69561_510+69562insCAAATGTTTACAAGTTTTTCAC...
NM_024717.7:c.2242-32_2242-31insCAAATGTTTACAAGTTTTTCACGCAGTTCAATTTGCAATATATTA MANE Select NP_078993.4:n.2242-32_2242-31insCAAATGTTTACAAGTTTTTCACGCAGTTC...