Canonical Allele Identifier: CA5293672
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs546088299
ExAC: 9:134393969 CCA / C
gnomAD v2: 9-134393969-CCA-C
gnomAD v3: 9-131518582-CCA-C
gnomAD v4: 9-131518582-CCA-C
MyVariant Identifiers: chr9:g.134393970_134393971del (hg19) chr9:g.131518583_131518584del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518583_131518584del , CM000671.2:g.131518583_131518584del GRCh38
NC_000009.11:g.134393970_134393971del , CM000671.1:g.134393970_134393971del GRCh37
NC_000009.10:g.133383791_133383792del NCBI36
NG_008896.1:g.20682_20683del
NG_008896.2:g.20682_20683del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1203+46_1203+47del ENSP00000343034.7:n.1203+46_1203+47del
ENST00000404875.7:n.1905+46_1905+47del
ENST00000423007.6:c.1422+46_1422+47del ENSP00000404119.2:n.1422+46_1422+47del
ENST00000677295.2:c.*1709+46_*1709+47del ENSP00000504346.2:n.*1709+46_*1709+47del
ENST00000678264.2:c.*1548+46_*1548+47del ENSP00000503157.2:n.*1548+46_*1548+47del
ENST00000682070.1:n.1830+46_1830+47del
ENST00000682539.1:c.303+46_303+47del
ENST00000682813.1:n.1630+46_1630+47del
ENST00000683110.1:n.93+46_93+47del
ENST00000683392.1:n.4112+46_4112+47del
ENST00000683712.1:n.1770+46_1770+47del
ENST00000683900.1:n.3265+46_3265+47del
ENST00000684062.1:n.2031+46_2031+47del
ENST00000684579.1:n.3211+46_3211+47del
ENST00000684679.1:n.592+46_592+47del
ENST00000341012.12:c.1203+46_1203+47del ENSP00000343034.7:n.1203+46_1203+47del
ENST00000372220.5:c.234+46_234+47del ENSP00000361294.5:n.234+46_234+47del
ENST00000372228.9:c.1431+46_1431+47del ENSP00000361302.3:n.1431+46_1431+47del
ENST00000402686.8:c.1365+46_1365+47del MANE Select ENSP00000385797.4:n.1365+46_1365+47del
ENST00000676640.1:c.1365+46_1365+47del ENSP00000503281.1:n.1365+46_1365+47del
ENST00000676803.1:c.540+46_540+47del ENSP00000503093.1:n.540+46_540+47del
ENST00000676835.1:c.*580+46_*580+47del ENSP00000502911.1:n.*580+46_*580+47del
ENST00000677029.1:c.909+46_909+47del ENSP00000502936.1:n.909+46_909+47del
ENST00000677099.1:c.*1075+46_*1075+47del ENSP00000504553.1:n.*1075+46_*1075+47del
ENST00000677216.1:c.1014+46_1014+47del ENSP00000503772.1:n.1014+46_1014+47del
ENST00000677221.1:n.390+46_390+47del
ENST00000677295.1:c.*742+46_*742+47del ENSP00000504346.1:n.*742+46_*742+47del
ENST00000677444.1:c.1171+46_1171+47del
ENST00000677586.1:n.846+46_846+47del
ENST00000677626.1:c.1014+46_1014+47del ENSP00000503552.1:n.1014+46_1014+47del
ENST00000677677.1:n.1325+46_1325+47del
ENST00000677853.1:c.*373+46_*373+47del ENSP00000503488.1:n.*373+46_*373+47del
ENST00000677983.1:n.454+46_454+47del
ENST00000678202.1:n.385+46_385+47del
ENST00000678264.1:c.*742+46_*742+47del ENSP00000503157.1:n.*742+46_*742+47del
ENST00000678303.1:c.1275+46_1275+47del ENSP00000503696.1:n.1275+46_1275+47del
ENST00000678366.1:c.*1614+46_*1614+47del ENSP00000504353.1:n.*1614+46_*1614+47del
ENST00000678546.1:c.*1310+46_*1310+47del ENSP00000503062.1:n.*1310+46_*1310+47del
ENST00000678548.1:c.*1437+46_*1437+47del ENSP00000503934.1:n.*1437+46_*1437+47del
ENST00000678626.1:n.1062+46_1062+47del
ENST00000678733.1:c.446+46_446+47del
ENST00000678739.1:c.*1691+46_*1691+47del ENSP00000503806.1:n.*1691+46_*1691+47del
ENST00000678795.1:n.452+46_452+47del
ENST00000678833.1:c.*812+46_*812+47del ENSP00000503893.1:n.*812+46_*812+47del
ENST00000678942.1:c.545+46_545+47del ENSP00000504690.1:n.545+46_545+47del
ENST00000679023.1:c.1203+46_1203+47del ENSP00000503718.1:n.1203+46_1203+47del
ENST00000679076.1:c.984+46_984+47del
ENST00000679111.1:c.1365+46_1365+47del ENSP00000504257.1:n.1365+46_1365+47del
ENST00000679189.1:c.1014+46_1014+47del ENSP00000503356.1:n.1014+46_1014+47del
ENST00000341012.11:c.1203+46_1203+47del ENSP00000343034.7:n.1203+46_1203+47del
ENST00000372220.4:c.228+46_228+47del ENSP00000361294.4:n.228+46_228+47del
ENST00000372228.7:c.1431+46_1431+47del ENSP00000361302.3:n.1431+46_1431+47del
ENST00000402686.7:c.1365+46_1365+47del ENSP00000385797.3:n.1365+46_1365+47del
ENST00000404875.6:c.1014+46_1014+47del ENSP00000384531.2:n.1014+46_1014+47del
ENST00000423007.5:c.1365+46_1365+47del ENSP00000404119.1:n.1365+46_1365+47del
ENST00000485278.5:n.1920+46_1920+47del
NM_001077365.1:c.1365+46_1365+47del NP_001070833.1:n.1365+46_1365+47del
NM_001077366.1:c.1203+46_1203+47del NP_001070834.1:n.1203+46_1203+47del
NM_001136113.1:c.1365+46_1365+47del NP_001129585.1:n.1365+46_1365+47del
NM_001136114.1:c.1014+46_1014+47del NP_001129586.1:n.1014+46_1014+47del
NM_007171.3:c.1431+46_1431+47del NP_009102.3:n.1431+46_1431+47del
XM_005272156.1:c.1431+46_1431+47del XP_005272213.1:n.1431+46_1431+47del
XM_005272158.1:c.1269+46_1269+47del XP_005272215.1:n.1269+46_1269+47del
XM_005272159.1:c.1080+46_1080+47del XP_005272216.1:n.1080+46_1080+47del
XM_005272162.1:c.234+46_234+47del XP_005272219.1:n.234+46_234+47del
XM_006716932.1:c.1080+46_1080+47del XP_006716995.1:n.1080+46_1080+47del
XM_011518140.1:c.1284+46_1284+47del XP_011516442.1:n.1284+46_1284+47del
XM_011518141.1:c.1218+46_1218+47del XP_011516443.1:n.1218+46_1218+47del
XM_011518142.1:c.1122+46_1122+47del XP_011516444.1:n.1122+46_1122+47del
XM_011518143.1:c.1116+46_1116+47del XP_011516445.1:n.1116+46_1116+47del
XM_011518144.1:c.1431+46_1431+47del XP_011516446.1:n.1431+46_1431+47del
XM_011518145.1:c.975+46_975+47del XP_011516447.1:n.975+46_975+47del
XM_011518146.1:c.1116+46_1116+47del XP_011516448.1:n.1116+46_1116+47del
XM_011518147.1:c.303+46_303+47del XP_011516449.1:n.303+46_303+47del
XR_929703.1:n.1607+46_1607+47del
NM_001353193.1:c.1431+46_1431+47del NP_001340122.1:n.1431+46_1431+47del
NM_001353194.1:c.1203+46_1203+47del NP_001340123.1:n.1203+46_1203+47del
NM_001353195.1:c.1014+46_1014+47del NP_001340124.1:n.1014+46_1014+47del
NM_001353196.1:c.1275+46_1275+47del NP_001340125.1:n.1275+46_1275+47del
NM_001353197.1:c.1269+46_1269+47del NP_001340126.1:n.1269+46_1269+47del
NM_001353198.1:c.1269+46_1269+47del NP_001340127.1:n.1269+46_1269+47del
NM_001353199.1:c.1080+46_1080+47del NP_001340128.1:n.1080+46_1080+47del
NM_001353200.1:c.909+46_909+47del NP_001340129.1:n.909+46_909+47del
NR_148391.1:n.1415+46_1415+47del
NR_148392.1:n.1633+46_1633+47del
NR_148393.1:n.1415+46_1415+47del
NR_148394.1:n.1308+46_1308+47del
NR_148395.1:n.1567+46_1567+47del
NR_148396.1:n.1201+46_1201+47del
NR_148397.1:n.1465+46_1465+47del
NR_148398.1:n.1420+46_1420+47del
NR_148399.1:n.1807+46_1807+47del
NR_148400.1:n.1406+46_1406+47del
XM_005272162.3:c.234+46_234+47del XP_005272219.1:n.234+46_234+47del
XM_006716932.2:c.1080+46_1080+47del XP_006716995.1:n.1080+46_1080+47del
XM_011518140.2:c.1284+46_1284+47del XP_011516442.1:n.1284+46_1284+47del
XM_011518141.2:c.1218+46_1218+47del XP_011516443.1:n.1218+46_1218+47del
XM_011518142.2:c.1122+46_1122+47del XP_011516444.1:n.1122+46_1122+47del
XM_011518143.2:c.1116+46_1116+47del XP_011516445.1:n.1116+46_1116+47del
XM_011518145.2:c.975+46_975+47del XP_011516447.1:n.975+46_975+47del
XM_017014205.2:c.234+46_234+47del XP_016869694.1:n.234+46_234+47del
XM_024447380.1:c.234+46_234+47del XP_024303148.1:n.234+46_234+47del
XM_024447381.1:c.540+46_540+47del XP_024303149.1:n.540+46_540+47del
XM_024447382.1:c.234+46_234+47del XP_024303150.1:n.234+46_234+47del
XR_001746160.2:n.1535+46_1535+47del
XR_001746162.2:n.1601+46_1601+47del
XR_001746164.1:n.1318+46_1318+47del
XR_001746166.2:n.1752+46_1752+47del
NM_001077365.2:c.1365+46_1365+47del MANE Select NP_001070833.1:n.1365+46_1365+47del
NM_001077366.2:c.1203+46_1203+47del NP_001070834.1:n.1203+46_1203+47del
NM_001136113.2:c.1365+46_1365+47del NP_001129585.1:n.1365+46_1365+47del
NM_001136114.2:c.1014+46_1014+47del NP_001129586.1:n.1014+46_1014+47del
NM_001353193.2:c.1431+46_1431+47del NP_001340122.2:n.1431+46_1431+47del
NM_001353194.2:c.1203+46_1203+47del NP_001340123.1:n.1203+46_1203+47del
NM_001353195.2:c.1014+46_1014+47del NP_001340124.1:n.1014+46_1014+47del
NM_001353196.2:c.1275+46_1275+47del NP_001340125.1:n.1275+46_1275+47del
NM_001353197.2:c.1269+46_1269+47del NP_001340126.2:n.1269+46_1269+47del
NM_001353198.2:c.1269+46_1269+47del NP_001340127.2:n.1269+46_1269+47del
NM_001353199.2:c.1080+46_1080+47del NP_001340128.2:n.1080+46_1080+47del
NM_001353200.2:c.909+46_909+47del NP_001340129.1:n.909+46_909+47del
NM_001374689.1:c.1353+46_1353+47del NP_001361618.1:n.1353+46_1353+47del
NM_001374690.1:c.1365+46_1365+47del NP_001361619.1:n.1365+46_1365+47del
NM_001374691.1:c.1014+46_1014+47del NP_001361620.1:n.1014+46_1014+47del
NM_001374692.1:c.1014+46_1014+47del NP_001361621.1:n.1014+46_1014+47del
NM_001374693.1:c.1014+46_1014+47del NP_001361622.1:n.1014+46_1014+47del
NM_001374695.1:c.975+46_975+47del NP_001361624.1:n.975+46_975+47del
NM_007171.4:c.1431+46_1431+47del NP_009102.4:n.1431+46_1431+47del
NR_148391.2:n.1399+46_1399+47del
NR_148392.2:n.1617+46_1617+47del
NR_148393.2:n.1399+46_1399+47del
NR_148394.2:n.1292+46_1292+47del
NR_148395.2:n.1551+46_1551+47del
NR_148396.2:n.1185+46_1185+47del
NR_148397.2:n.1449+46_1449+47del
NR_148398.2:n.1404+46_1404+47del
NR_148399.2:n.1791+46_1791+47del
NR_148400.2:n.1390+46_1390+47del
Search 100 bp 5'
Search 100 bp 3'