Canonical Allele Identifier: CA2692220572
Gene: POMT1 HGNC NCBI

Linked Data

gnomAD v4: 9-131518591-TTCCCAA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518592_131518597del , CM000671.2:g.131518592_131518597del GRCh38
NC_000009.11:g.134393979_134393984del , CM000671.1:g.134393979_134393984del GRCh37
NC_000009.10:g.133383800_133383805del NCBI36
NG_008896.1:g.20691_20696del
NG_008896.2:g.20691_20696del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1203+55_1203+60del ENSP00000343034.7:n.1203+55_1203+60del
ENST00000404875.7:n.1905+55_1905+60del
ENST00000423007.6:c.1422+55_1422+60del ENSP00000404119.2:n.1422+55_1422+60del
ENST00000677295.2:c.*1709+55_*1709+60del ENSP00000504346.2:n.*1709+55_*1709+60del
ENST00000678264.2:c.*1548+55_*1548+60del ENSP00000503157.2:n.*1548+55_*1548+60del
ENST00000682070.1:n.1830+55_1830+60del
ENST00000682539.1:c.303+55_303+60del
ENST00000682813.1:n.1630+55_1630+60del
ENST00000683110.1:n.93+55_93+60del
ENST00000683392.1:n.4112+55_4112+60del
ENST00000683712.1:n.1770+55_1770+60del
ENST00000683900.1:n.3265+55_3265+60del
ENST00000684062.1:n.2031+55_2031+60del
ENST00000684579.1:n.3211+55_3211+60del
ENST00000684679.1:n.592+55_592+60del
ENST00000341012.12:c.1203+55_1203+60del ENSP00000343034.7:n.1203+55_1203+60del
ENST00000372220.5:c.234+55_234+60del ENSP00000361294.5:n.234+55_234+60del
ENST00000372228.9:c.1431+55_1431+60del ENSP00000361302.3:n.1431+55_1431+60del
ENST00000402686.8:c.1365+55_1365+60del MANE Select ENSP00000385797.4:n.1365+55_1365+60del
ENST00000676640.1:c.1365+55_1365+60del ENSP00000503281.1:n.1365+55_1365+60del
ENST00000676803.1:c.540+55_540+60del ENSP00000503093.1:n.540+55_540+60del
ENST00000676835.1:c.*580+55_*580+60del ENSP00000502911.1:n.*580+55_*580+60del
ENST00000677029.1:c.909+55_909+60del ENSP00000502936.1:n.909+55_909+60del
ENST00000677099.1:c.*1075+55_*1075+60del ENSP00000504553.1:n.*1075+55_*1075+60del
ENST00000677216.1:c.1014+55_1014+60del ENSP00000503772.1:n.1014+55_1014+60del
ENST00000677221.1:n.390+55_390+60del
ENST00000677295.1:c.*742+55_*742+60del ENSP00000504346.1:n.*742+55_*742+60del
ENST00000677444.1:c.1171+55_1171+60del
ENST00000677586.1:n.846+55_846+60del
ENST00000677626.1:c.1014+55_1014+60del ENSP00000503552.1:n.1014+55_1014+60del
ENST00000677677.1:n.1325+55_1325+60del
ENST00000677853.1:c.*373+55_*373+60del ENSP00000503488.1:n.*373+55_*373+60del
ENST00000677983.1:n.454+55_454+60del
ENST00000678202.1:n.385+55_385+60del
ENST00000678264.1:c.*742+55_*742+60del ENSP00000503157.1:n.*742+55_*742+60del
ENST00000678303.1:c.1275+55_1275+60del ENSP00000503696.1:n.1275+55_1275+60del
ENST00000678366.1:c.*1614+55_*1614+60del ENSP00000504353.1:n.*1614+55_*1614+60del
ENST00000678546.1:c.*1310+55_*1310+60del ENSP00000503062.1:n.*1310+55_*1310+60del
ENST00000678548.1:c.*1437+55_*1437+60del ENSP00000503934.1:n.*1437+55_*1437+60del
ENST00000678626.1:n.1062+55_1062+60del
ENST00000678733.1:c.446+55_446+60del
ENST00000678739.1:c.*1691+55_*1691+60del ENSP00000503806.1:n.*1691+55_*1691+60del
ENST00000678795.1:n.452+55_452+60del
ENST00000678833.1:c.*812+55_*812+60del ENSP00000503893.1:n.*812+55_*812+60del
ENST00000678942.1:c.545+55_545+60del ENSP00000504690.1:n.545+55_545+60del
ENST00000679023.1:c.1203+55_1203+60del ENSP00000503718.1:n.1203+55_1203+60del
ENST00000679076.1:c.984+55_984+60del
ENST00000679111.1:c.1365+55_1365+60del ENSP00000504257.1:n.1365+55_1365+60del
ENST00000679189.1:c.1014+55_1014+60del ENSP00000503356.1:n.1014+55_1014+60del
ENST00000341012.11:c.1203+55_1203+60del ENSP00000343034.7:n.1203+55_1203+60del
ENST00000372220.4:c.228+55_228+60del ENSP00000361294.4:n.228+55_228+60del
ENST00000372228.7:c.1431+55_1431+60del ENSP00000361302.3:n.1431+55_1431+60del
ENST00000402686.7:c.1365+55_1365+60del ENSP00000385797.3:n.1365+55_1365+60del
ENST00000404875.6:c.1014+55_1014+60del ENSP00000384531.2:n.1014+55_1014+60del
ENST00000423007.5:c.1365+55_1365+60del ENSP00000404119.1:n.1365+55_1365+60del
ENST00000485278.5:n.1920+55_1920+60del
NM_001077365.1:c.1365+55_1365+60del NP_001070833.1:n.1365+55_1365+60del
NM_001077366.1:c.1203+55_1203+60del NP_001070834.1:n.1203+55_1203+60del
NM_001136113.1:c.1365+55_1365+60del NP_001129585.1:n.1365+55_1365+60del
NM_001136114.1:c.1014+55_1014+60del NP_001129586.1:n.1014+55_1014+60del
NM_007171.3:c.1431+55_1431+60del NP_009102.3:n.1431+55_1431+60del
XM_005272156.1:c.1431+55_1431+60del XP_005272213.1:n.1431+55_1431+60del
XM_005272158.1:c.1269+55_1269+60del XP_005272215.1:n.1269+55_1269+60del
XM_005272159.1:c.1080+55_1080+60del XP_005272216.1:n.1080+55_1080+60del
XM_005272162.1:c.234+55_234+60del XP_005272219.1:n.234+55_234+60del
XM_006716932.1:c.1080+55_1080+60del XP_006716995.1:n.1080+55_1080+60del
XM_011518140.1:c.1284+55_1284+60del XP_011516442.1:n.1284+55_1284+60del
XM_011518141.1:c.1218+55_1218+60del XP_011516443.1:n.1218+55_1218+60del
XM_011518142.1:c.1122+55_1122+60del XP_011516444.1:n.1122+55_1122+60del
XM_011518143.1:c.1116+55_1116+60del XP_011516445.1:n.1116+55_1116+60del
XM_011518144.1:c.1431+55_1431+60del XP_011516446.1:n.1431+55_1431+60del
XM_011518145.1:c.975+55_975+60del XP_011516447.1:n.975+55_975+60del
XM_011518146.1:c.1116+55_1116+60del XP_011516448.1:n.1116+55_1116+60del
XM_011518147.1:c.303+55_303+60del XP_011516449.1:n.303+55_303+60del
XR_929703.1:n.1607+55_1607+60del
NM_001353193.1:c.1431+55_1431+60del NP_001340122.1:n.1431+55_1431+60del
NM_001353194.1:c.1203+55_1203+60del NP_001340123.1:n.1203+55_1203+60del
NM_001353195.1:c.1014+55_1014+60del NP_001340124.1:n.1014+55_1014+60del
NM_001353196.1:c.1275+55_1275+60del NP_001340125.1:n.1275+55_1275+60del
NM_001353197.1:c.1269+55_1269+60del NP_001340126.1:n.1269+55_1269+60del
NM_001353198.1:c.1269+55_1269+60del NP_001340127.1:n.1269+55_1269+60del
NM_001353199.1:c.1080+55_1080+60del NP_001340128.1:n.1080+55_1080+60del
NM_001353200.1:c.909+55_909+60del NP_001340129.1:n.909+55_909+60del
NR_148391.1:n.1415+55_1415+60del
NR_148392.1:n.1633+55_1633+60del
NR_148393.1:n.1415+55_1415+60del
NR_148394.1:n.1308+55_1308+60del
NR_148395.1:n.1567+55_1567+60del
NR_148396.1:n.1201+55_1201+60del
NR_148397.1:n.1465+55_1465+60del
NR_148398.1:n.1420+55_1420+60del
NR_148399.1:n.1807+55_1807+60del
NR_148400.1:n.1406+55_1406+60del
XM_005272162.3:c.234+55_234+60del XP_005272219.1:n.234+55_234+60del
XM_006716932.2:c.1080+55_1080+60del XP_006716995.1:n.1080+55_1080+60del
XM_011518140.2:c.1284+55_1284+60del XP_011516442.1:n.1284+55_1284+60del
XM_011518141.2:c.1218+55_1218+60del XP_011516443.1:n.1218+55_1218+60del
XM_011518142.2:c.1122+55_1122+60del XP_011516444.1:n.1122+55_1122+60del
XM_011518143.2:c.1116+55_1116+60del XP_011516445.1:n.1116+55_1116+60del
XM_011518145.2:c.975+55_975+60del XP_011516447.1:n.975+55_975+60del
XM_017014205.2:c.234+55_234+60del XP_016869694.1:n.234+55_234+60del
XM_024447380.1:c.234+55_234+60del XP_024303148.1:n.234+55_234+60del
XM_024447381.1:c.540+55_540+60del XP_024303149.1:n.540+55_540+60del
XM_024447382.1:c.234+55_234+60del XP_024303150.1:n.234+55_234+60del
XR_001746160.2:n.1535+55_1535+60del
XR_001746162.2:n.1601+55_1601+60del
XR_001746164.1:n.1318+55_1318+60del
XR_001746166.2:n.1752+55_1752+60del
NM_001077365.2:c.1365+55_1365+60del MANE Select NP_001070833.1:n.1365+55_1365+60del
NM_001077366.2:c.1203+55_1203+60del NP_001070834.1:n.1203+55_1203+60del
NM_001136113.2:c.1365+55_1365+60del NP_001129585.1:n.1365+55_1365+60del
NM_001136114.2:c.1014+55_1014+60del NP_001129586.1:n.1014+55_1014+60del
NM_001353193.2:c.1431+55_1431+60del NP_001340122.2:n.1431+55_1431+60del
NM_001353194.2:c.1203+55_1203+60del NP_001340123.1:n.1203+55_1203+60del
NM_001353195.2:c.1014+55_1014+60del NP_001340124.1:n.1014+55_1014+60del
NM_001353196.2:c.1275+55_1275+60del NP_001340125.1:n.1275+55_1275+60del
NM_001353197.2:c.1269+55_1269+60del NP_001340126.2:n.1269+55_1269+60del
NM_001353198.2:c.1269+55_1269+60del NP_001340127.2:n.1269+55_1269+60del
NM_001353199.2:c.1080+55_1080+60del NP_001340128.2:n.1080+55_1080+60del
NM_001353200.2:c.909+55_909+60del NP_001340129.1:n.909+55_909+60del
NM_001374689.1:c.1353+55_1353+60del NP_001361618.1:n.1353+55_1353+60del
NM_001374690.1:c.1365+55_1365+60del NP_001361619.1:n.1365+55_1365+60del
NM_001374691.1:c.1014+55_1014+60del NP_001361620.1:n.1014+55_1014+60del
NM_001374692.1:c.1014+55_1014+60del NP_001361621.1:n.1014+55_1014+60del
NM_001374693.1:c.1014+55_1014+60del NP_001361622.1:n.1014+55_1014+60del
NM_001374695.1:c.975+55_975+60del NP_001361624.1:n.975+55_975+60del
NM_007171.4:c.1431+55_1431+60del NP_009102.4:n.1431+55_1431+60del
NR_148391.2:n.1399+55_1399+60del
NR_148392.2:n.1617+55_1617+60del
NR_148393.2:n.1399+55_1399+60del
NR_148394.2:n.1292+55_1292+60del
NR_148395.2:n.1551+55_1551+60del
NR_148396.2:n.1185+55_1185+60del
NR_148397.2:n.1449+55_1449+60del
NR_148398.2:n.1404+55_1404+60del
NR_148399.2:n.1791+55_1791+60del
NR_148400.2:n.1390+55_1390+60del
Search 100 bp 5'
Search 100 bp 3'