Canonical Allele Identifier: CA860555946
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1362497211
gnomAD v3: 9-131518543-GAC-G
gnomAD v4: 9-131518543-GAC-G
MyVariant Identifiers: chr9:g.134393931_134393932del (hg19) chr9:g.131518544_131518545del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518546_131518547del , CM000671.2:g.131518546_131518547del GRCh38
NC_000009.11:g.134393933_134393934del , CM000671.1:g.134393933_134393934del GRCh37
NC_000009.10:g.133383754_133383755del NCBI36
NG_008896.1:g.20645_20646del
NG_008896.2:g.20645_20646del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1203+9_1203+10del ENSP00000343034.7:n.1203+9_1203+10del
ENST00000404875.7:n.1905+9_1905+10del
ENST00000423007.6:c.1422+9_1422+10del ENSP00000404119.2:n.1422+9_1422+10del
ENST00000677295.2:c.*1709+9_*1709+10del ENSP00000504346.2:n.*1709+9_*1709+10del
ENST00000678264.2:c.*1548+9_*1548+10del ENSP00000503157.2:n.*1548+9_*1548+10del
ENST00000682070.1:n.1830+9_1830+10del
ENST00000682539.1:c.303+9_303+10del
ENST00000682813.1:n.1630+9_1630+10del
ENST00000683110.1:n.93+9_93+10del
ENST00000683392.1:n.4112+9_4112+10del
ENST00000683712.1:n.1770+9_1770+10del
ENST00000683900.1:n.3265+9_3265+10del
ENST00000684062.1:n.2031+9_2031+10del
ENST00000684579.1:n.3211+9_3211+10del
ENST00000684679.1:n.592+9_592+10del
ENST00000341012.12:c.1203+9_1203+10del ENSP00000343034.7:n.1203+9_1203+10del
ENST00000372220.5:c.234+9_234+10del ENSP00000361294.5:n.234+9_234+10del
ENST00000372228.9:c.1431+9_1431+10del ENSP00000361302.3:n.1431+9_1431+10del
ENST00000402686.8:c.1365+9_1365+10del MANE Select ENSP00000385797.4:n.1365+9_1365+10del
ENST00000676640.1:c.1365+9_1365+10del ENSP00000503281.1:n.1365+9_1365+10del
ENST00000676803.1:c.540+9_540+10del ENSP00000503093.1:n.540+9_540+10del
ENST00000676835.1:c.*580+9_*580+10del ENSP00000502911.1:n.*580+9_*580+10del
ENST00000677029.1:c.909+9_909+10del ENSP00000502936.1:n.909+9_909+10del
ENST00000677099.1:c.*1075+9_*1075+10del ENSP00000504553.1:n.*1075+9_*1075+10del
ENST00000677216.1:c.1014+9_1014+10del ENSP00000503772.1:n.1014+9_1014+10del
ENST00000677221.1:n.390+9_390+10del
ENST00000677295.1:c.*742+9_*742+10del ENSP00000504346.1:n.*742+9_*742+10del
ENST00000677444.1:c.1171+9_1171+10del
ENST00000677586.1:n.846+9_846+10del
ENST00000677626.1:c.1014+9_1014+10del ENSP00000503552.1:n.1014+9_1014+10del
ENST00000677677.1:n.1325+9_1325+10del
ENST00000677853.1:c.*373+9_*373+10del ENSP00000503488.1:n.*373+9_*373+10del
ENST00000677983.1:n.454+9_454+10del
ENST00000678202.1:n.385+9_385+10del
ENST00000678264.1:c.*742+9_*742+10del ENSP00000503157.1:n.*742+9_*742+10del
ENST00000678303.1:c.1275+9_1275+10del ENSP00000503696.1:n.1275+9_1275+10del
ENST00000678366.1:c.*1614+9_*1614+10del ENSP00000504353.1:n.*1614+9_*1614+10del
ENST00000678546.1:c.*1310+9_*1310+10del ENSP00000503062.1:n.*1310+9_*1310+10del
ENST00000678548.1:c.*1437+9_*1437+10del ENSP00000503934.1:n.*1437+9_*1437+10del
ENST00000678626.1:n.1062+9_1062+10del
ENST00000678733.1:c.446+9_446+10del
ENST00000678739.1:c.*1691+9_*1691+10del ENSP00000503806.1:n.*1691+9_*1691+10del
ENST00000678795.1:n.452+9_452+10del
ENST00000678833.1:c.*812+9_*812+10del ENSP00000503893.1:n.*812+9_*812+10del
ENST00000678942.1:c.545+9_545+10del ENSP00000504690.1:n.545+9_545+10del
ENST00000679023.1:c.1203+9_1203+10del ENSP00000503718.1:n.1203+9_1203+10del
ENST00000679076.1:c.984+9_984+10del
ENST00000679111.1:c.1365+9_1365+10del ENSP00000504257.1:n.1365+9_1365+10del
ENST00000679189.1:c.1014+9_1014+10del ENSP00000503356.1:n.1014+9_1014+10del
ENST00000341012.11:c.1203+9_1203+10del ENSP00000343034.7:n.1203+9_1203+10del
ENST00000372220.4:c.228+9_228+10del ENSP00000361294.4:n.228+9_228+10del
ENST00000372228.7:c.1431+9_1431+10del ENSP00000361302.3:n.1431+9_1431+10del
ENST00000402686.7:c.1365+9_1365+10del ENSP00000385797.3:n.1365+9_1365+10del
ENST00000404875.6:c.1014+9_1014+10del ENSP00000384531.2:n.1014+9_1014+10del
ENST00000423007.5:c.1365+9_1365+10del ENSP00000404119.1:n.1365+9_1365+10del
ENST00000485278.5:n.1920+9_1920+10del
NM_001077365.1:c.1365+9_1365+10del NP_001070833.1:n.1365+9_1365+10del
NM_001077366.1:c.1203+9_1203+10del NP_001070834.1:n.1203+9_1203+10del
NM_001136113.1:c.1365+9_1365+10del NP_001129585.1:n.1365+9_1365+10del
NM_001136114.1:c.1014+9_1014+10del NP_001129586.1:n.1014+9_1014+10del
NM_007171.3:c.1431+9_1431+10del NP_009102.3:n.1431+9_1431+10del
XM_005272156.1:c.1431+9_1431+10del XP_005272213.1:n.1431+9_1431+10del
XM_005272158.1:c.1269+9_1269+10del XP_005272215.1:n.1269+9_1269+10del
XM_005272159.1:c.1080+9_1080+10del XP_005272216.1:n.1080+9_1080+10del
XM_005272162.1:c.234+9_234+10del XP_005272219.1:n.234+9_234+10del
XM_006716932.1:c.1080+9_1080+10del XP_006716995.1:n.1080+9_1080+10del
XM_011518140.1:c.1284+9_1284+10del XP_011516442.1:n.1284+9_1284+10del
XM_011518141.1:c.1218+9_1218+10del XP_011516443.1:n.1218+9_1218+10del
XM_011518142.1:c.1122+9_1122+10del XP_011516444.1:n.1122+9_1122+10del
XM_011518143.1:c.1116+9_1116+10del XP_011516445.1:n.1116+9_1116+10del
XM_011518144.1:c.1431+9_1431+10del XP_011516446.1:n.1431+9_1431+10del
XM_011518145.1:c.975+9_975+10del XP_011516447.1:n.975+9_975+10del
XM_011518146.1:c.1116+9_1116+10del XP_011516448.1:n.1116+9_1116+10del
XM_011518147.1:c.303+9_303+10del XP_011516449.1:n.303+9_303+10del
XR_929703.1:n.1607+9_1607+10del
NM_001353193.1:c.1431+9_1431+10del NP_001340122.1:n.1431+9_1431+10del
NM_001353194.1:c.1203+9_1203+10del NP_001340123.1:n.1203+9_1203+10del
NM_001353195.1:c.1014+9_1014+10del NP_001340124.1:n.1014+9_1014+10del
NM_001353196.1:c.1275+9_1275+10del NP_001340125.1:n.1275+9_1275+10del
NM_001353197.1:c.1269+9_1269+10del NP_001340126.1:n.1269+9_1269+10del
NM_001353198.1:c.1269+9_1269+10del NP_001340127.1:n.1269+9_1269+10del
NM_001353199.1:c.1080+9_1080+10del NP_001340128.1:n.1080+9_1080+10del
NM_001353200.1:c.909+9_909+10del NP_001340129.1:n.909+9_909+10del
NR_148391.1:n.1415+9_1415+10del
NR_148392.1:n.1633+9_1633+10del
NR_148393.1:n.1415+9_1415+10del
NR_148394.1:n.1308+9_1308+10del
NR_148395.1:n.1567+9_1567+10del
NR_148396.1:n.1201+9_1201+10del
NR_148397.1:n.1465+9_1465+10del
NR_148398.1:n.1420+9_1420+10del
NR_148399.1:n.1807+9_1807+10del
NR_148400.1:n.1406+9_1406+10del
XM_005272162.3:c.234+9_234+10del XP_005272219.1:n.234+9_234+10del
XM_006716932.2:c.1080+9_1080+10del XP_006716995.1:n.1080+9_1080+10del
XM_011518140.2:c.1284+9_1284+10del XP_011516442.1:n.1284+9_1284+10del
XM_011518141.2:c.1218+9_1218+10del XP_011516443.1:n.1218+9_1218+10del
XM_011518142.2:c.1122+9_1122+10del XP_011516444.1:n.1122+9_1122+10del
XM_011518143.2:c.1116+9_1116+10del XP_011516445.1:n.1116+9_1116+10del
XM_011518145.2:c.975+9_975+10del XP_011516447.1:n.975+9_975+10del
XM_017014205.2:c.234+9_234+10del XP_016869694.1:n.234+9_234+10del
XM_024447380.1:c.234+9_234+10del XP_024303148.1:n.234+9_234+10del
XM_024447381.1:c.540+9_540+10del XP_024303149.1:n.540+9_540+10del
XM_024447382.1:c.234+9_234+10del XP_024303150.1:n.234+9_234+10del
XR_001746160.2:n.1535+9_1535+10del
XR_001746162.2:n.1601+9_1601+10del
XR_001746164.1:n.1318+9_1318+10del
XR_001746166.2:n.1752+9_1752+10del
NM_001077365.2:c.1365+9_1365+10del MANE Select NP_001070833.1:n.1365+9_1365+10del
NM_001077366.2:c.1203+9_1203+10del NP_001070834.1:n.1203+9_1203+10del
NM_001136113.2:c.1365+9_1365+10del NP_001129585.1:n.1365+9_1365+10del
NM_001136114.2:c.1014+9_1014+10del NP_001129586.1:n.1014+9_1014+10del
NM_001353193.2:c.1431+9_1431+10del NP_001340122.2:n.1431+9_1431+10del
NM_001353194.2:c.1203+9_1203+10del NP_001340123.1:n.1203+9_1203+10del
NM_001353195.2:c.1014+9_1014+10del NP_001340124.1:n.1014+9_1014+10del
NM_001353196.2:c.1275+9_1275+10del NP_001340125.1:n.1275+9_1275+10del
NM_001353197.2:c.1269+9_1269+10del NP_001340126.2:n.1269+9_1269+10del
NM_001353198.2:c.1269+9_1269+10del NP_001340127.2:n.1269+9_1269+10del
NM_001353199.2:c.1080+9_1080+10del NP_001340128.2:n.1080+9_1080+10del
NM_001353200.2:c.909+9_909+10del NP_001340129.1:n.909+9_909+10del
NM_001374689.1:c.1353+9_1353+10del NP_001361618.1:n.1353+9_1353+10del
NM_001374690.1:c.1365+9_1365+10del NP_001361619.1:n.1365+9_1365+10del
NM_001374691.1:c.1014+9_1014+10del NP_001361620.1:n.1014+9_1014+10del
NM_001374692.1:c.1014+9_1014+10del NP_001361621.1:n.1014+9_1014+10del
NM_001374693.1:c.1014+9_1014+10del NP_001361622.1:n.1014+9_1014+10del
NM_001374695.1:c.975+9_975+10del NP_001361624.1:n.975+9_975+10del
NM_007171.4:c.1431+9_1431+10del NP_009102.4:n.1431+9_1431+10del
NR_148391.2:n.1399+9_1399+10del
NR_148392.2:n.1617+9_1617+10del
NR_148393.2:n.1399+9_1399+10del
NR_148394.2:n.1292+9_1292+10del
NR_148395.2:n.1551+9_1551+10del
NR_148396.2:n.1185+9_1185+10del
NR_148397.2:n.1449+9_1449+10del
NR_148398.2:n.1404+9_1404+10del
NR_148399.2:n.1791+9_1791+10del
NR_148400.2:n.1390+9_1390+10del
Search 100 bp 5'
Search 100 bp 3'