Canonical Allele Identifier: CA1129597951
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1948297648
gnomAD v3: 9-131515807-CGGAGCACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACAGGGAGCACTTTCTCTAACACAGGACACTTCCTCACAT-C
gnomAD v4: 9-131515807-CGGAGCACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACAGGGAGCACTTTCTCTAACACAGGACACTTCCTCACAT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515821_131515909del , CM000671.2:g.131515821_131515909del GRCh38
NC_000009.11:g.134391208_134391296del , CM000671.1:g.134391208_134391296del GRCh37
NC_000009.10:g.133381029_133381117del NCBI36
NG_008896.1:g.17920_18008del
NG_008896.2:g.17920_18008del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+299_1110+387del ENSP00000343034.7:n.1110+299_1110+387del
ENST00000404875.7:n.1812+299_1812+387del
ENST00000423007.6:c.1329+299_1329+387del ENSP00000404119.2:n.1329+299_1329+387del
ENST00000677295.2:c.*1616+299_*1616+387del ENSP00000504346.2:n.*1616+299_*1616+387del
ENST00000678264.2:c.*1455+299_*1455+387del ENSP00000503157.2:n.*1455+299_*1455+387del
ENST00000682070.1:n.1737+299_1737+387del
ENST00000682539.1:c.97+299_97+387del
ENST00000682813.1:n.1537+299_1537+387del
ENST00000683392.1:n.4019+299_4019+387del
ENST00000683712.1:n.1677+299_1677+387del
ENST00000683900.1:n.3172+299_3172+387del
ENST00000684062.1:n.1938+299_1938+387del
ENST00000684579.1:n.3118+299_3118+387del
ENST00000341012.12:c.1110+299_1110+387del ENSP00000343034.7:n.1110+299_1110+387del
ENST00000372220.5:c.141+299_141+387del ENSP00000361294.5:n.141+299_141+387del
ENST00000372228.9:c.1338+299_1338+387del ENSP00000361302.3:n.1338+299_1338+387del
ENST00000402686.8:c.1272+299_1272+387del MANE Select ENSP00000385797.4:n.1272+299_1272+387del
ENST00000676640.1:c.1272+299_1272+387del ENSP00000503281.1:n.1272+299_1272+387del
ENST00000676803.1:c.447+299_447+387del ENSP00000503093.1:n.447+299_447+387del
ENST00000676835.1:c.*487+299_*487+387del ENSP00000502911.1:n.*487+299_*487+387del
ENST00000677029.1:c.816+299_816+387del ENSP00000502936.1:n.816+299_816+387del
ENST00000677099.1:c.*982+299_*982+387del ENSP00000504553.1:n.*982+299_*982+387del
ENST00000677216.1:c.921+299_921+387del ENSP00000503772.1:n.921+299_921+387del
ENST00000677295.1:c.*649+299_*649+387del ENSP00000504346.1:n.*649+299_*649+387del
ENST00000677444.1:c.1078+299_1078+387del
ENST00000677586.1:n.753+299_753+387del
ENST00000677626.1:c.921+299_921+387del ENSP00000503552.1:n.921+299_921+387del
ENST00000677677.1:n.1232+299_1232+387del
ENST00000677853.1:c.*280+299_*280+387del ENSP00000503488.1:n.*280+299_*280+387del
ENST00000677944.1:c.534+299_534+387del
ENST00000678264.1:c.*649+299_*649+387del ENSP00000503157.1:n.*649+299_*649+387del
ENST00000678303.1:c.1182+299_1182+387del ENSP00000503696.1:n.1182+299_1182+387del
ENST00000678366.1:c.*1521+299_*1521+387del ENSP00000504353.1:n.*1521+299_*1521+387del
ENST00000678546.1:c.*1217+299_*1217+387del ENSP00000503062.1:n.*1217+299_*1217+387del
ENST00000678548.1:c.*1344+299_*1344+387del ENSP00000503934.1:n.*1344+299_*1344+387del
ENST00000678626.1:n.969+299_969+387del
ENST00000678733.1:c.353+299_353+387del
ENST00000678739.1:c.*1598+299_*1598+387del ENSP00000503806.1:n.*1598+299_*1598+387del
ENST00000678795.1:n.359+299_359+387del
ENST00000678833.1:c.*719+299_*719+387del ENSP00000503893.1:n.*719+299_*719+387del
ENST00000678942.1:c.452+299_452+387del ENSP00000504690.1:n.452+299_452+387del
ENST00000679023.1:c.1110+299_1110+387del ENSP00000503718.1:n.1110+299_1110+387del
ENST00000679076.1:c.891+299_891+387del
ENST00000679111.1:c.1272+299_1272+387del ENSP00000504257.1:n.1272+299_1272+387del
ENST00000679189.1:c.921+299_921+387del ENSP00000503356.1:n.921+299_921+387del
ENST00000341012.11:c.1110+299_1110+387del ENSP00000343034.7:n.1110+299_1110+387del
ENST00000372228.7:c.1338+299_1338+387del ENSP00000361302.3:n.1338+299_1338+387del
ENST00000402686.7:c.1272+299_1272+387del ENSP00000385797.3:n.1272+299_1272+387del
ENST00000404875.6:c.921+299_921+387del ENSP00000384531.2:n.921+299_921+387del
ENST00000423007.5:c.1272+299_1272+387del ENSP00000404119.1:n.1272+299_1272+387del
ENST00000485278.5:n.1827+299_1827+387del
NM_001077365.1:c.1272+299_1272+387del NP_001070833.1:n.1272+299_1272+387del
NM_001077366.1:c.1110+299_1110+387del NP_001070834.1:n.1110+299_1110+387del
NM_001136113.1:c.1272+299_1272+387del NP_001129585.1:n.1272+299_1272+387del
NM_001136114.1:c.921+299_921+387del NP_001129586.1:n.921+299_921+387del
NM_007171.3:c.1338+299_1338+387del NP_009102.3:n.1338+299_1338+387del
XM_005272156.1:c.1338+299_1338+387del XP_005272213.1:n.1338+299_1338+387del
XM_005272158.1:c.1176+299_1176+387del XP_005272215.1:n.1176+299_1176+387del
XM_005272159.1:c.987+299_987+387del XP_005272216.1:n.987+299_987+387del
XM_005272162.1:c.141+299_141+387del XP_005272219.1:n.141+299_141+387del
XM_006716932.1:c.987+299_987+387del XP_006716995.1:n.987+299_987+387del
XM_011518140.1:c.1191+299_1191+387del XP_011516442.1:n.1191+299_1191+387del
XM_011518141.1:c.1125+299_1125+387del XP_011516443.1:n.1125+299_1125+387del
XM_011518142.1:c.1029+299_1029+387del XP_011516444.1:n.1029+299_1029+387del
XM_011518143.1:c.1023+299_1023+387del XP_011516445.1:n.1023+299_1023+387del
XM_011518144.1:c.1338+299_1338+387del XP_011516446.1:n.1338+299_1338+387del
XM_011518145.1:c.882+299_882+387del XP_011516447.1:n.882+299_882+387del
XM_011518146.1:c.1023+299_1023+387del XP_011516448.1:n.1023+299_1023+387del
XR_929703.1:n.1514+299_1514+387del
NM_001353193.1:c.1338+299_1338+387del NP_001340122.1:n.1338+299_1338+387del
NM_001353194.1:c.1110+299_1110+387del NP_001340123.1:n.1110+299_1110+387del
NM_001353195.1:c.921+299_921+387del NP_001340124.1:n.921+299_921+387del
NM_001353196.1:c.1182+299_1182+387del NP_001340125.1:n.1182+299_1182+387del
NM_001353197.1:c.1176+299_1176+387del NP_001340126.1:n.1176+299_1176+387del
NM_001353198.1:c.1176+299_1176+387del NP_001340127.1:n.1176+299_1176+387del
NM_001353199.1:c.987+299_987+387del NP_001340128.1:n.987+299_987+387del
NM_001353200.1:c.816+299_816+387del NP_001340129.1:n.816+299_816+387del
NR_148391.1:n.1322+299_1322+387del
NR_148392.1:n.1540+299_1540+387del
NR_148393.1:n.1322+299_1322+387del
NR_148394.1:n.1215+299_1215+387del
NR_148395.1:n.1474+299_1474+387del
NR_148396.1:n.1108+299_1108+387del
NR_148397.1:n.1372+299_1372+387del
NR_148398.1:n.1327+299_1327+387del
NR_148399.1:n.1714+299_1714+387del
NR_148400.1:n.1313+299_1313+387del
XM_005272162.3:c.141+299_141+387del XP_005272219.1:n.141+299_141+387del
XM_006716932.2:c.987+299_987+387del XP_006716995.1:n.987+299_987+387del
XM_011518140.2:c.1191+299_1191+387del XP_011516442.1:n.1191+299_1191+387del
XM_011518141.2:c.1125+299_1125+387del XP_011516443.1:n.1125+299_1125+387del
XM_011518142.2:c.1029+299_1029+387del XP_011516444.1:n.1029+299_1029+387del
XM_011518143.2:c.1023+299_1023+387del XP_011516445.1:n.1023+299_1023+387del
XM_011518145.2:c.882+299_882+387del XP_011516447.1:n.882+299_882+387del
XM_017014205.2:c.141+299_141+387del XP_016869694.1:n.141+299_141+387del
XM_024447380.1:c.141+299_141+387del XP_024303148.1:n.141+299_141+387del
XM_024447381.1:c.447+299_447+387del XP_024303149.1:n.447+299_447+387del
XM_024447382.1:c.141+299_141+387del XP_024303150.1:n.141+299_141+387del
XR_001746160.2:n.1442+299_1442+387del
XR_001746162.2:n.1508+299_1508+387del
XR_001746164.1:n.1225+299_1225+387del
XR_001746166.2:n.1659+299_1659+387del
NM_001077365.2:c.1272+299_1272+387del MANE Select NP_001070833.1:n.1272+299_1272+387del
NM_001077366.2:c.1110+299_1110+387del NP_001070834.1:n.1110+299_1110+387del
NM_001136113.2:c.1272+299_1272+387del NP_001129585.1:n.1272+299_1272+387del
NM_001136114.2:c.921+299_921+387del NP_001129586.1:n.921+299_921+387del
NM_001353193.2:c.1338+299_1338+387del NP_001340122.2:n.1338+299_1338+387del
NM_001353194.2:c.1110+299_1110+387del NP_001340123.1:n.1110+299_1110+387del
NM_001353195.2:c.921+299_921+387del NP_001340124.1:n.921+299_921+387del
NM_001353196.2:c.1182+299_1182+387del NP_001340125.1:n.1182+299_1182+387del
NM_001353197.2:c.1176+299_1176+387del NP_001340126.2:n.1176+299_1176+387del
NM_001353198.2:c.1176+299_1176+387del NP_001340127.2:n.1176+299_1176+387del
NM_001353199.2:c.987+299_987+387del NP_001340128.2:n.987+299_987+387del
NM_001353200.2:c.816+299_816+387del NP_001340129.1:n.816+299_816+387del
NM_001374689.1:c.1260+299_1260+387del NP_001361618.1:n.1260+299_1260+387del
NM_001374690.1:c.1272+299_1272+387del NP_001361619.1:n.1272+299_1272+387del
NM_001374691.1:c.921+299_921+387del NP_001361620.1:n.921+299_921+387del
NM_001374692.1:c.921+299_921+387del NP_001361621.1:n.921+299_921+387del
NM_001374693.1:c.921+299_921+387del NP_001361622.1:n.921+299_921+387del
NM_001374695.1:c.882+299_882+387del NP_001361624.1:n.882+299_882+387del
NM_007171.4:c.1338+299_1338+387del NP_009102.4:n.1338+299_1338+387del
NR_148391.2:n.1306+299_1306+387del
NR_148392.2:n.1524+299_1524+387del
NR_148393.2:n.1306+299_1306+387del
NR_148394.2:n.1199+299_1199+387del
NR_148395.2:n.1458+299_1458+387del
NR_148396.2:n.1092+299_1092+387del
NR_148397.2:n.1356+299_1356+387del
NR_148398.2:n.1311+299_1311+387del
NR_148399.2:n.1698+299_1698+387del
NR_148400.2:n.1297+299_1297+387del
Search 100 bp 5'
Search 100 bp 3'