Canonical Allele Identifier: CA3260661627
Community Standard Title: NM_001077365.2(POMT1):c.691_692del (p.Leu231ValfsTer?)
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131509988_131509989del , CM000671.2:g.131509988_131509989del GRCh38
NC_000009.11:g.134385375_134385376del , CM000671.1:g.134385375_134385376del GRCh37
NC_000009.10:g.133375196_133375197del NCBI36
NG_008896.1:g.12087_12088del
NG_008896.2:g.12087_12088del

Transcript Alleles

HGVS Amino-acid Change
NM_001077365.2:c.691_692del MANE Select NP_001070833.1:p.Leu231ValfsTer?
ENST00000402686.8:c.691_692del MANE Select ENSP00000385797.4:p.Leu231ValfsTer?
NM_001077365.1:c.691_692del NP_001070833.1:p.Leu231ValfsTer?
NM_001077366.1:c.529_530del NP_001070834.1:p.Leu177ValfsTer?
NM_001077366.2:c.529_530del NP_001070834.1:p.Leu177ValfsTer?
NM_001136113.1:c.691_692del NP_001129585.1:p.Leu231ValfsTer?
NM_001136113.2:c.691_692del NP_001129585.1:p.Leu231ValfsTer?
NM_001136114.1:c.340_341del NP_001129586.1:p.Leu114ValfsTer?
NM_001136114.2:c.340_341del NP_001129586.1:p.Leu114ValfsTer?
NM_001353193.1:c.691_692del NP_001340122.1:p.Leu231ValfsTer6
NM_001353193.2:c.691_692del NP_001340122.2:p.Leu231ValfsTer6
NM_001353194.1:c.529_530del NP_001340123.1:p.Leu177ValfsTer?
NM_001353194.2:c.529_530del NP_001340123.1:p.Leu177ValfsTer?
NM_001353195.1:c.340_341del NP_001340124.1:p.Leu114ValfsTer?
NM_001353195.2:c.340_341del NP_001340124.1:p.Leu114ValfsTer?
NM_001353196.1:c.601_602del NP_001340125.1:p.Leu201ValfsTer?
NM_001353196.2:c.601_602del NP_001340125.1:p.Leu201ValfsTer?
NM_001353197.1:c.529_530del NP_001340126.1:p.Leu177ValfsTer6
NM_001353197.2:c.529_530del NP_001340126.2:p.Leu177ValfsTer6
NM_001353198.1:c.529_530del NP_001340127.1:p.Leu177ValfsTer6
NM_001353198.2:c.529_530del NP_001340127.2:p.Leu177ValfsTer6
NM_001353199.1:c.340_341del NP_001340128.1:p.Leu114ValfsTer6
NM_001353199.2:c.340_341del NP_001340128.2:p.Leu114ValfsTer6
NM_001353200.1:c.235_236del NP_001340129.1:p.Leu79ValfsTer?
NM_001353200.2:c.235_236del NP_001340129.1:p.Leu79ValfsTer?
NM_001374689.1:c.529_530del NP_001361618.1:p.Leu177ValfsTer6
NM_001374690.1:c.691_692del NP_001361619.1:p.Leu231ValfsTer?
NM_001374691.1:c.340_341del NP_001361620.1:p.Leu114ValfsTer?
NM_001374692.1:c.340_341del NP_001361621.1:p.Leu114ValfsTer?
NM_001374693.1:c.529_530del NP_001361622.1:p.Leu177ValfsTer?
NM_001374695.1:c.235_236del NP_001361624.1:p.Leu79ValfsTer6
NM_007171.3:c.691_692del NP_009102.3:p.Leu231ValfsTer6
NM_007171.4:c.691_692del NP_009102.4:p.Leu231ValfsTer6
NR_148391.1:n.741_742del
NR_148391.2:n.725_726del
NR_148392.1:n.893_894del
NR_148392.2:n.877_878del
NR_148393.1:n.741_742del
NR_148393.2:n.725_726del
NR_148394.1:n.629_630del
NR_148394.2:n.613_614del
NR_148395.1:n.893_894del
NR_148395.2:n.877_878del
NR_148396.1:n.522_523del
NR_148396.2:n.506_507del
NR_148397.1:n.786_787del
NR_148397.2:n.770_771del
NR_148398.1:n.741_742del
NR_148398.2:n.725_726del
NR_148399.1:n.1133_1134del
NR_148399.2:n.1117_1118del
NR_148400.1:n.727_728del
NR_148400.2:n.711_712del
ENST00000341012.11:c.529_530del ENSP00000343034.7:p.Leu177ValfsTer?
ENST00000341012.12:c.529_530del ENSP00000343034.7:p.Leu177ValfsTer?
ENST00000341012.13:c.529_530del ENSP00000343034.7:p.Leu177ValfsTer?
ENST00000372220.5:c.-145-2053_-145-2052del ENSP00000361294.5:n.-145-2053_-145-2052del
ENST00000372228.7:c.691_692del ENSP00000361302.3:p.Leu231ValfsTer6
ENST00000372228.9:c.691_692del ENSP00000361302.3:p.Leu231ValfsTer6
ENST00000402686.7:c.691_692del ENSP00000385797.3:p.Leu231ValfsTer?
ENST00000404875.6:c.340_341del ENSP00000384531.2:p.Leu114ValfsTer?
ENST00000404875.7:n.800_801del
ENST00000415075.5:c.189-369_189-368del ENSP00000405149.1:n.189-369_189-368del
ENST00000415075.6:c.*250-369_*250-368del ENSP00000405149.2:n.*250-369_*250-368del
ENST00000423007.5:c.691_692del ENSP00000404119.1:p.Leu231ValfsTer?
ENST00000423007.6:c.682_683del ENSP00000404119.2:p.Leu228ValfsTer6
ENST00000430619.1:c.340_341del ENSP00000402083.1:p.Leu114ValfsTer?
ENST00000430619.2:c.235_236del ENSP00000402083.2:p.Leu79ValfsTer6
ENST00000441334.5:c.340_341del ENSP00000395060.1:p.Leu114ValfsTer6
ENST00000448212.5:c.529_530del ENSP00000403736.1:p.Leu177ValfsTer6
ENST00000462375.5:n.249_250del
ENST00000462375.6:n.515_516del
ENST00000462375.7:n.198_199del
ENST00000676640.1:c.691_692del ENSP00000503281.1:p.Leu231ValfsTer?
ENST00000676803.1:c.-126-272_-126-271del ENSP00000503093.1:n.-126-272_-126-271del
ENST00000676835.1:c.189-272_189-271del ENSP00000502911.1:n.189-272_189-271del
ENST00000676915.1:c.544_545del ENSP00000504628.1:p.Leu182ValfsTer?
ENST00000677029.1:c.235_236del ENSP00000502936.1:p.Leu79ValfsTer?
ENST00000677099.1:c.*401_*402del ENSP00000504553.1:n.*401_*402del
ENST00000677216.1:c.340_341del ENSP00000503772.1:p.Leu114ValfsTer?
ENST00000677293.1:c.-29-369_-29-368del ENSP00000504278.1:n.-29-369_-29-368del
ENST00000677295.1:c.529_530del ENSP00000504346.1:p.Leu177ValfsTer6
ENST00000677295.2:c.*767_*768del ENSP00000504346.2:n.*767_*768del
ENST00000677444.1:c.234_235del
ENST00000677586.1:n.181-272_181-271del
ENST00000677626.1:c.529_530del ENSP00000503552.1:p.Leu177ValfsTer?
ENST00000677677.1:n.651_652del
ENST00000677729.1:c.*138_*139del ENSP00000503581.1:n.*138_*139del
ENST00000677853.1:c.378-369_378-368del ENSP00000503488.1:n.378-369_378-368del
ENST00000677944.1:c.59-369_59-368del
ENST00000678264.1:c.691_692del ENSP00000503157.1:p.Leu231ValfsTer6
ENST00000678264.2:c.*874_*875del ENSP00000503157.2:n.*874_*875del
ENST00000678303.1:c.601_602del ENSP00000503696.1:p.Leu201ValfsTer?
ENST00000678366.1:c.*874_*875del ENSP00000504353.1:n.*874_*875del
ENST00000678546.1:c.529_530del ENSP00000503062.1:p.Leu177ValfsTer6
ENST00000678548.1:c.*495_*496del ENSP00000503934.1:n.*495_*496del
ENST00000678626.1:n.383_384del
ENST00000678693.1:n.374_375del
ENST00000678707.1:n.329_330del
ENST00000678739.1:c.*749_*750del ENSP00000503806.1:n.*749_*750del
ENST00000678833.1:c.*138_*139del ENSP00000503893.1:n.*138_*139del
ENST00000678942.2:c.386_387del ENSP00000504690.2:p.Phe129CysfsTer4
ENST00000679023.1:c.529_530del ENSP00000503718.1:p.Leu177ValfsTer?
ENST00000679076.1:c.402_403del
ENST00000679111.1:c.691_692del ENSP00000504257.1:p.Leu231ValfsTer?
ENST00000679189.1:c.340_341del ENSP00000503356.1:p.Leu114ValfsTer?
ENST00000682070.1:n.888_889del
ENST00000682813.1:n.693_694del
ENST00000683134.1:c.66+180_66+181del
ENST00000683392.1:n.3175_3176del
ENST00000683712.1:n.828_829del
ENST00000683855.1:n.86_87del
ENST00000683900.1:n.1755_1756del
ENST00000684062.1:n.1094_1095del
ENST00000684579.1:n.2269_2270del
XM_005272156.1:c.691_692del XP_005272213.1:p.Leu231ValfsTer6
XM_005272158.1:c.529_530del XP_005272215.1:p.Leu177ValfsTer6
XM_005272159.1:c.340_341del XP_005272216.1:p.Leu114ValfsTer6
XM_005272162.1:c.-709_-708del XP_005272219.1:n.-709_-708del
XM_005272162.3:c.-709_-708del XP_005272219.1:n.-709_-708del
XM_006716932.1:c.340_341del XP_006716995.1:p.Leu114ValfsTer6
XM_006716932.2:c.340_341del XP_006716995.1:p.Leu114ValfsTer6
XM_011518140.1:c.544_545del XP_011516442.1:p.Leu182ValfsTer6
XM_011518140.2:c.544_545del XP_011516442.1:p.Leu182ValfsTer6
XM_011518141.1:c.544_545del XP_011516443.1:p.Leu182ValfsTer?
XM_011518141.2:c.544_545del XP_011516443.1:p.Leu182ValfsTer?
XM_011518142.1:c.382_383del XP_011516444.1:p.Leu128ValfsTer6
XM_011518142.2:c.382_383del XP_011516444.1:p.Leu128ValfsTer6
XM_011518143.1:c.437_438del XP_011516445.1:p.Phe146CysfsTer?
XM_011518143.2:c.437_438del XP_011516445.1:p.Phe146CysfsTer?
XM_011518144.1:c.691_692del XP_011516446.1:p.Leu231ValfsTer6
XM_011518145.1:c.235_236del XP_011516447.1:p.Leu79ValfsTer6
XM_011518145.2:c.235_236del XP_011516447.1:p.Leu79ValfsTer6
XM_011518146.1:c.437_438del XP_011516448.1:p.Phe146CysfsTer?
XM_017014205.2:c.-512_-511del XP_016869694.1:n.-512_-511del
XM_024447380.1:c.-446_-445del XP_024303148.1:n.-446_-445del
XM_024447381.1:c.-398_-397del XP_024303149.1:n.-398_-397del
XM_024447382.1:c.-709_-708del XP_024303150.1:n.-709_-708del
XR_001746160.2:n.861_862del
XR_001746162.2:n.861_862del
XR_001746164.1:n.639_640del
XR_001746166.2:n.815_816del
XR_929703.1:n.867_868del