Canonical Allele Identifier: CA2692220549
Gene: POMT1 HGNC NCBI

Linked Data

gnomAD v4: 9-131518578-GGCTC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518579_131518582del , CM000671.2:g.131518579_131518582del GRCh38
NC_000009.11:g.134393966_134393969del , CM000671.1:g.134393966_134393969del GRCh37
NC_000009.10:g.133383787_133383790del NCBI36
NG_008896.1:g.20678_20681del
NG_008896.2:g.20678_20681del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1203+42_1203+45del ENSP00000343034.7:n.1203+42_1203+45del
ENST00000404875.7:n.1905+42_1905+45del
ENST00000423007.6:c.1422+42_1422+45del ENSP00000404119.2:n.1422+42_1422+45del
ENST00000677295.2:c.*1709+42_*1709+45del ENSP00000504346.2:n.*1709+42_*1709+45del
ENST00000678264.2:c.*1548+42_*1548+45del ENSP00000503157.2:n.*1548+42_*1548+45del
ENST00000682070.1:n.1830+42_1830+45del
ENST00000682539.1:c.303+42_303+45del
ENST00000682813.1:n.1630+42_1630+45del
ENST00000683110.1:n.93+42_93+45del
ENST00000683392.1:n.4112+42_4112+45del
ENST00000683712.1:n.1770+42_1770+45del
ENST00000683900.1:n.3265+42_3265+45del
ENST00000684062.1:n.2031+42_2031+45del
ENST00000684579.1:n.3211+42_3211+45del
ENST00000684679.1:n.592+42_592+45del
ENST00000341012.12:c.1203+42_1203+45del ENSP00000343034.7:n.1203+42_1203+45del
ENST00000372220.5:c.234+42_234+45del ENSP00000361294.5:n.234+42_234+45del
ENST00000372228.9:c.1431+42_1431+45del ENSP00000361302.3:n.1431+42_1431+45del
ENST00000402686.8:c.1365+42_1365+45del MANE Select ENSP00000385797.4:n.1365+42_1365+45del
ENST00000676640.1:c.1365+42_1365+45del ENSP00000503281.1:n.1365+42_1365+45del
ENST00000676803.1:c.540+42_540+45del ENSP00000503093.1:n.540+42_540+45del
ENST00000676835.1:c.*580+42_*580+45del ENSP00000502911.1:n.*580+42_*580+45del
ENST00000677029.1:c.909+42_909+45del ENSP00000502936.1:n.909+42_909+45del
ENST00000677099.1:c.*1075+42_*1075+45del ENSP00000504553.1:n.*1075+42_*1075+45del
ENST00000677216.1:c.1014+42_1014+45del ENSP00000503772.1:n.1014+42_1014+45del
ENST00000677221.1:n.390+42_390+45del
ENST00000677295.1:c.*742+42_*742+45del ENSP00000504346.1:n.*742+42_*742+45del
ENST00000677444.1:c.1171+42_1171+45del
ENST00000677586.1:n.846+42_846+45del
ENST00000677626.1:c.1014+42_1014+45del ENSP00000503552.1:n.1014+42_1014+45del
ENST00000677677.1:n.1325+42_1325+45del
ENST00000677853.1:c.*373+42_*373+45del ENSP00000503488.1:n.*373+42_*373+45del
ENST00000677983.1:n.454+42_454+45del
ENST00000678202.1:n.385+42_385+45del
ENST00000678264.1:c.*742+42_*742+45del ENSP00000503157.1:n.*742+42_*742+45del
ENST00000678303.1:c.1275+42_1275+45del ENSP00000503696.1:n.1275+42_1275+45del
ENST00000678366.1:c.*1614+42_*1614+45del ENSP00000504353.1:n.*1614+42_*1614+45del
ENST00000678546.1:c.*1310+42_*1310+45del ENSP00000503062.1:n.*1310+42_*1310+45del
ENST00000678548.1:c.*1437+42_*1437+45del ENSP00000503934.1:n.*1437+42_*1437+45del
ENST00000678626.1:n.1062+42_1062+45del
ENST00000678733.1:c.446+42_446+45del
ENST00000678739.1:c.*1691+42_*1691+45del ENSP00000503806.1:n.*1691+42_*1691+45del
ENST00000678795.1:n.452+42_452+45del
ENST00000678833.1:c.*812+42_*812+45del ENSP00000503893.1:n.*812+42_*812+45del
ENST00000678942.1:c.545+42_545+45del ENSP00000504690.1:n.545+42_545+45del
ENST00000679023.1:c.1203+42_1203+45del ENSP00000503718.1:n.1203+42_1203+45del
ENST00000679076.1:c.984+42_984+45del
ENST00000679111.1:c.1365+42_1365+45del ENSP00000504257.1:n.1365+42_1365+45del
ENST00000679189.1:c.1014+42_1014+45del ENSP00000503356.1:n.1014+42_1014+45del
ENST00000341012.11:c.1203+42_1203+45del ENSP00000343034.7:n.1203+42_1203+45del
ENST00000372220.4:c.228+42_228+45del ENSP00000361294.4:n.228+42_228+45del
ENST00000372228.7:c.1431+42_1431+45del ENSP00000361302.3:n.1431+42_1431+45del
ENST00000402686.7:c.1365+42_1365+45del ENSP00000385797.3:n.1365+42_1365+45del
ENST00000404875.6:c.1014+42_1014+45del ENSP00000384531.2:n.1014+42_1014+45del
ENST00000423007.5:c.1365+42_1365+45del ENSP00000404119.1:n.1365+42_1365+45del
ENST00000485278.5:n.1920+42_1920+45del
NM_001077365.1:c.1365+42_1365+45del NP_001070833.1:n.1365+42_1365+45del
NM_001077366.1:c.1203+42_1203+45del NP_001070834.1:n.1203+42_1203+45del
NM_001136113.1:c.1365+42_1365+45del NP_001129585.1:n.1365+42_1365+45del
NM_001136114.1:c.1014+42_1014+45del NP_001129586.1:n.1014+42_1014+45del
NM_007171.3:c.1431+42_1431+45del NP_009102.3:n.1431+42_1431+45del
XM_005272156.1:c.1431+42_1431+45del XP_005272213.1:n.1431+42_1431+45del
XM_005272158.1:c.1269+42_1269+45del XP_005272215.1:n.1269+42_1269+45del
XM_005272159.1:c.1080+42_1080+45del XP_005272216.1:n.1080+42_1080+45del
XM_005272162.1:c.234+42_234+45del XP_005272219.1:n.234+42_234+45del
XM_006716932.1:c.1080+42_1080+45del XP_006716995.1:n.1080+42_1080+45del
XM_011518140.1:c.1284+42_1284+45del XP_011516442.1:n.1284+42_1284+45del
XM_011518141.1:c.1218+42_1218+45del XP_011516443.1:n.1218+42_1218+45del
XM_011518142.1:c.1122+42_1122+45del XP_011516444.1:n.1122+42_1122+45del
XM_011518143.1:c.1116+42_1116+45del XP_011516445.1:n.1116+42_1116+45del
XM_011518144.1:c.1431+42_1431+45del XP_011516446.1:n.1431+42_1431+45del
XM_011518145.1:c.975+42_975+45del XP_011516447.1:n.975+42_975+45del
XM_011518146.1:c.1116+42_1116+45del XP_011516448.1:n.1116+42_1116+45del
XM_011518147.1:c.303+42_303+45del XP_011516449.1:n.303+42_303+45del
XR_929703.1:n.1607+42_1607+45del
NM_001353193.1:c.1431+42_1431+45del NP_001340122.1:n.1431+42_1431+45del
NM_001353194.1:c.1203+42_1203+45del NP_001340123.1:n.1203+42_1203+45del
NM_001353195.1:c.1014+42_1014+45del NP_001340124.1:n.1014+42_1014+45del
NM_001353196.1:c.1275+42_1275+45del NP_001340125.1:n.1275+42_1275+45del
NM_001353197.1:c.1269+42_1269+45del NP_001340126.1:n.1269+42_1269+45del
NM_001353198.1:c.1269+42_1269+45del NP_001340127.1:n.1269+42_1269+45del
NM_001353199.1:c.1080+42_1080+45del NP_001340128.1:n.1080+42_1080+45del
NM_001353200.1:c.909+42_909+45del NP_001340129.1:n.909+42_909+45del
NR_148391.1:n.1415+42_1415+45del
NR_148392.1:n.1633+42_1633+45del
NR_148393.1:n.1415+42_1415+45del
NR_148394.1:n.1308+42_1308+45del
NR_148395.1:n.1567+42_1567+45del
NR_148396.1:n.1201+42_1201+45del
NR_148397.1:n.1465+42_1465+45del
NR_148398.1:n.1420+42_1420+45del
NR_148399.1:n.1807+42_1807+45del
NR_148400.1:n.1406+42_1406+45del
XM_005272162.3:c.234+42_234+45del XP_005272219.1:n.234+42_234+45del
XM_006716932.2:c.1080+42_1080+45del XP_006716995.1:n.1080+42_1080+45del
XM_011518140.2:c.1284+42_1284+45del XP_011516442.1:n.1284+42_1284+45del
XM_011518141.2:c.1218+42_1218+45del XP_011516443.1:n.1218+42_1218+45del
XM_011518142.2:c.1122+42_1122+45del XP_011516444.1:n.1122+42_1122+45del
XM_011518143.2:c.1116+42_1116+45del XP_011516445.1:n.1116+42_1116+45del
XM_011518145.2:c.975+42_975+45del XP_011516447.1:n.975+42_975+45del
XM_017014205.2:c.234+42_234+45del XP_016869694.1:n.234+42_234+45del
XM_024447380.1:c.234+42_234+45del XP_024303148.1:n.234+42_234+45del
XM_024447381.1:c.540+42_540+45del XP_024303149.1:n.540+42_540+45del
XM_024447382.1:c.234+42_234+45del XP_024303150.1:n.234+42_234+45del
XR_001746160.2:n.1535+42_1535+45del
XR_001746162.2:n.1601+42_1601+45del
XR_001746164.1:n.1318+42_1318+45del
XR_001746166.2:n.1752+42_1752+45del
NM_001077365.2:c.1365+42_1365+45del MANE Select NP_001070833.1:n.1365+42_1365+45del
NM_001077366.2:c.1203+42_1203+45del NP_001070834.1:n.1203+42_1203+45del
NM_001136113.2:c.1365+42_1365+45del NP_001129585.1:n.1365+42_1365+45del
NM_001136114.2:c.1014+42_1014+45del NP_001129586.1:n.1014+42_1014+45del
NM_001353193.2:c.1431+42_1431+45del NP_001340122.2:n.1431+42_1431+45del
NM_001353194.2:c.1203+42_1203+45del NP_001340123.1:n.1203+42_1203+45del
NM_001353195.2:c.1014+42_1014+45del NP_001340124.1:n.1014+42_1014+45del
NM_001353196.2:c.1275+42_1275+45del NP_001340125.1:n.1275+42_1275+45del
NM_001353197.2:c.1269+42_1269+45del NP_001340126.2:n.1269+42_1269+45del
NM_001353198.2:c.1269+42_1269+45del NP_001340127.2:n.1269+42_1269+45del
NM_001353199.2:c.1080+42_1080+45del NP_001340128.2:n.1080+42_1080+45del
NM_001353200.2:c.909+42_909+45del NP_001340129.1:n.909+42_909+45del
NM_001374689.1:c.1353+42_1353+45del NP_001361618.1:n.1353+42_1353+45del
NM_001374690.1:c.1365+42_1365+45del NP_001361619.1:n.1365+42_1365+45del
NM_001374691.1:c.1014+42_1014+45del NP_001361620.1:n.1014+42_1014+45del
NM_001374692.1:c.1014+42_1014+45del NP_001361621.1:n.1014+42_1014+45del
NM_001374693.1:c.1014+42_1014+45del NP_001361622.1:n.1014+42_1014+45del
NM_001374695.1:c.975+42_975+45del NP_001361624.1:n.975+42_975+45del
NM_007171.4:c.1431+42_1431+45del NP_009102.4:n.1431+42_1431+45del
NR_148391.2:n.1399+42_1399+45del
NR_148392.2:n.1617+42_1617+45del
NR_148393.2:n.1399+42_1399+45del
NR_148394.2:n.1292+42_1292+45del
NR_148395.2:n.1551+42_1551+45del
NR_148396.2:n.1185+42_1185+45del
NR_148397.2:n.1449+42_1449+45del
NR_148398.2:n.1404+42_1404+45del
NR_148399.2:n.1791+42_1791+45del
NR_148400.2:n.1390+42_1390+45del
Search 100 bp 5'
Search 100 bp 3'