Canonical Allele Identifier: CA1881756854
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1948125272
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515547_131515566del , CM000671.2:g.131515547_131515566del GRCh38
NC_000009.11:g.134390934_134390953del , CM000671.1:g.134390934_134390953del GRCh37
NC_000009.10:g.133380755_133380774del NCBI36
NG_008896.1:g.17646_17665del
NG_008896.2:g.17646_17665del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+25_1110+44del ENSP00000343034.7:n.1110+25_1110+44del
ENST00000404875.7:n.1812+25_1812+44del
ENST00000423007.6:c.1329+25_1329+44del ENSP00000404119.2:n.1329+25_1329+44del
ENST00000677295.2:c.*1616+25_*1616+44del ENSP00000504346.2:n.*1616+25_*1616+44del
ENST00000678264.2:c.*1455+25_*1455+44del ENSP00000503157.2:n.*1455+25_*1455+44del
ENST00000682070.1:n.1737+25_1737+44del
ENST00000682539.1:c.97+25_97+44del
ENST00000682813.1:n.1537+25_1537+44del
ENST00000683392.1:n.4019+25_4019+44del
ENST00000683712.1:n.1677+25_1677+44del
ENST00000683900.1:n.3172+25_3172+44del
ENST00000684062.1:n.1938+25_1938+44del
ENST00000684579.1:n.3118+25_3118+44del
ENST00000341012.12:c.1110+25_1110+44del ENSP00000343034.7:n.1110+25_1110+44del
ENST00000372220.5:c.141+25_141+44del ENSP00000361294.5:n.141+25_141+44del
ENST00000372228.9:c.1338+25_1338+44del ENSP00000361302.3:n.1338+25_1338+44del
ENST00000402686.8:c.1272+25_1272+44del MANE Select ENSP00000385797.4:n.1272+25_1272+44del
ENST00000676640.1:c.1272+25_1272+44del ENSP00000503281.1:n.1272+25_1272+44del
ENST00000676803.1:c.447+25_447+44del ENSP00000503093.1:n.447+25_447+44del
ENST00000676835.1:c.*487+25_*487+44del ENSP00000502911.1:n.*487+25_*487+44del
ENST00000677029.1:c.816+25_816+44del ENSP00000502936.1:n.816+25_816+44del
ENST00000677099.1:c.*982+25_*982+44del ENSP00000504553.1:n.*982+25_*982+44del
ENST00000677216.1:c.921+25_921+44del ENSP00000503772.1:n.921+25_921+44del
ENST00000677295.1:c.*649+25_*649+44del ENSP00000504346.1:n.*649+25_*649+44del
ENST00000677444.1:c.1078+25_1078+44del
ENST00000677586.1:n.753+25_753+44del
ENST00000677626.1:c.921+25_921+44del ENSP00000503552.1:n.921+25_921+44del
ENST00000677677.1:n.1232+25_1232+44del
ENST00000677853.1:c.*280+25_*280+44del ENSP00000503488.1:n.*280+25_*280+44del
ENST00000677944.1:c.534+25_534+44del
ENST00000678264.1:c.*649+25_*649+44del ENSP00000503157.1:n.*649+25_*649+44del
ENST00000678303.1:c.1182+25_1182+44del ENSP00000503696.1:n.1182+25_1182+44del
ENST00000678366.1:c.*1521+25_*1521+44del ENSP00000504353.1:n.*1521+25_*1521+44del
ENST00000678546.1:c.*1217+25_*1217+44del ENSP00000503062.1:n.*1217+25_*1217+44del
ENST00000678548.1:c.*1344+25_*1344+44del ENSP00000503934.1:n.*1344+25_*1344+44del
ENST00000678626.1:n.969+25_969+44del
ENST00000678733.1:c.353+25_353+44del
ENST00000678739.1:c.*1598+25_*1598+44del ENSP00000503806.1:n.*1598+25_*1598+44del
ENST00000678795.1:n.359+25_359+44del
ENST00000678833.1:c.*719+25_*719+44del ENSP00000503893.1:n.*719+25_*719+44del
ENST00000678942.1:c.452+25_452+44del ENSP00000504690.1:n.452+25_452+44del
ENST00000679023.1:c.1110+25_1110+44del ENSP00000503718.1:n.1110+25_1110+44del
ENST00000679076.1:c.891+25_891+44del
ENST00000679111.1:c.1272+25_1272+44del ENSP00000504257.1:n.1272+25_1272+44del
ENST00000679189.1:c.921+25_921+44del ENSP00000503356.1:n.921+25_921+44del
ENST00000341012.11:c.1110+25_1110+44del ENSP00000343034.7:n.1110+25_1110+44del
ENST00000372228.7:c.1338+25_1338+44del ENSP00000361302.3:n.1338+25_1338+44del
ENST00000402686.7:c.1272+25_1272+44del ENSP00000385797.3:n.1272+25_1272+44del
ENST00000404875.6:c.921+25_921+44del ENSP00000384531.2:n.921+25_921+44del
ENST00000423007.5:c.1272+25_1272+44del ENSP00000404119.1:n.1272+25_1272+44del
ENST00000485278.5:n.1827+25_1827+44del
NM_001077365.1:c.1272+25_1272+44del NP_001070833.1:n.1272+25_1272+44del
NM_001077366.1:c.1110+25_1110+44del NP_001070834.1:n.1110+25_1110+44del
NM_001136113.1:c.1272+25_1272+44del NP_001129585.1:n.1272+25_1272+44del
NM_001136114.1:c.921+25_921+44del NP_001129586.1:n.921+25_921+44del
NM_007171.3:c.1338+25_1338+44del NP_009102.3:n.1338+25_1338+44del
XM_005272156.1:c.1338+25_1338+44del XP_005272213.1:n.1338+25_1338+44del
XM_005272158.1:c.1176+25_1176+44del XP_005272215.1:n.1176+25_1176+44del
XM_005272159.1:c.987+25_987+44del XP_005272216.1:n.987+25_987+44del
XM_005272162.1:c.141+25_141+44del XP_005272219.1:n.141+25_141+44del
XM_006716932.1:c.987+25_987+44del XP_006716995.1:n.987+25_987+44del
XM_011518140.1:c.1191+25_1191+44del XP_011516442.1:n.1191+25_1191+44del
XM_011518141.1:c.1125+25_1125+44del XP_011516443.1:n.1125+25_1125+44del
XM_011518142.1:c.1029+25_1029+44del XP_011516444.1:n.1029+25_1029+44del
XM_011518143.1:c.1023+25_1023+44del XP_011516445.1:n.1023+25_1023+44del
XM_011518144.1:c.1338+25_1338+44del XP_011516446.1:n.1338+25_1338+44del
XM_011518145.1:c.882+25_882+44del XP_011516447.1:n.882+25_882+44del
XM_011518146.1:c.1023+25_1023+44del XP_011516448.1:n.1023+25_1023+44del
XR_929703.1:n.1514+25_1514+44del
NM_001353193.1:c.1338+25_1338+44del NP_001340122.1:n.1338+25_1338+44del
NM_001353194.1:c.1110+25_1110+44del NP_001340123.1:n.1110+25_1110+44del
NM_001353195.1:c.921+25_921+44del NP_001340124.1:n.921+25_921+44del
NM_001353196.1:c.1182+25_1182+44del NP_001340125.1:n.1182+25_1182+44del
NM_001353197.1:c.1176+25_1176+44del NP_001340126.1:n.1176+25_1176+44del
NM_001353198.1:c.1176+25_1176+44del NP_001340127.1:n.1176+25_1176+44del
NM_001353199.1:c.987+25_987+44del NP_001340128.1:n.987+25_987+44del
NM_001353200.1:c.816+25_816+44del NP_001340129.1:n.816+25_816+44del
NR_148391.1:n.1322+25_1322+44del
NR_148392.1:n.1540+25_1540+44del
NR_148393.1:n.1322+25_1322+44del
NR_148394.1:n.1215+25_1215+44del
NR_148395.1:n.1474+25_1474+44del
NR_148396.1:n.1108+25_1108+44del
NR_148397.1:n.1372+25_1372+44del
NR_148398.1:n.1327+25_1327+44del
NR_148399.1:n.1714+25_1714+44del
NR_148400.1:n.1313+25_1313+44del
XM_005272162.3:c.141+25_141+44del XP_005272219.1:n.141+25_141+44del
XM_006716932.2:c.987+25_987+44del XP_006716995.1:n.987+25_987+44del
XM_011518140.2:c.1191+25_1191+44del XP_011516442.1:n.1191+25_1191+44del
XM_011518141.2:c.1125+25_1125+44del XP_011516443.1:n.1125+25_1125+44del
XM_011518142.2:c.1029+25_1029+44del XP_011516444.1:n.1029+25_1029+44del
XM_011518143.2:c.1023+25_1023+44del XP_011516445.1:n.1023+25_1023+44del
XM_011518145.2:c.882+25_882+44del XP_011516447.1:n.882+25_882+44del
XM_017014205.2:c.141+25_141+44del XP_016869694.1:n.141+25_141+44del
XM_024447380.1:c.141+25_141+44del XP_024303148.1:n.141+25_141+44del
XM_024447381.1:c.447+25_447+44del XP_024303149.1:n.447+25_447+44del
XM_024447382.1:c.141+25_141+44del XP_024303150.1:n.141+25_141+44del
XR_001746160.2:n.1442+25_1442+44del
XR_001746162.2:n.1508+25_1508+44del
XR_001746164.1:n.1225+25_1225+44del
XR_001746166.2:n.1659+25_1659+44del
NM_001077365.2:c.1272+25_1272+44del MANE Select NP_001070833.1:n.1272+25_1272+44del
NM_001077366.2:c.1110+25_1110+44del NP_001070834.1:n.1110+25_1110+44del
NM_001136113.2:c.1272+25_1272+44del NP_001129585.1:n.1272+25_1272+44del
NM_001136114.2:c.921+25_921+44del NP_001129586.1:n.921+25_921+44del
NM_001353193.2:c.1338+25_1338+44del NP_001340122.2:n.1338+25_1338+44del
NM_001353194.2:c.1110+25_1110+44del NP_001340123.1:n.1110+25_1110+44del
NM_001353195.2:c.921+25_921+44del NP_001340124.1:n.921+25_921+44del
NM_001353196.2:c.1182+25_1182+44del NP_001340125.1:n.1182+25_1182+44del
NM_001353197.2:c.1176+25_1176+44del NP_001340126.2:n.1176+25_1176+44del
NM_001353198.2:c.1176+25_1176+44del NP_001340127.2:n.1176+25_1176+44del
NM_001353199.2:c.987+25_987+44del NP_001340128.2:n.987+25_987+44del
NM_001353200.2:c.816+25_816+44del NP_001340129.1:n.816+25_816+44del
NM_001374689.1:c.1260+25_1260+44del NP_001361618.1:n.1260+25_1260+44del
NM_001374690.1:c.1272+25_1272+44del NP_001361619.1:n.1272+25_1272+44del
NM_001374691.1:c.921+25_921+44del NP_001361620.1:n.921+25_921+44del
NM_001374692.1:c.921+25_921+44del NP_001361621.1:n.921+25_921+44del
NM_001374693.1:c.921+25_921+44del NP_001361622.1:n.921+25_921+44del
NM_001374695.1:c.882+25_882+44del NP_001361624.1:n.882+25_882+44del
NM_007171.4:c.1338+25_1338+44del NP_009102.4:n.1338+25_1338+44del
NR_148391.2:n.1306+25_1306+44del
NR_148392.2:n.1524+25_1524+44del
NR_148393.2:n.1306+25_1306+44del
NR_148394.2:n.1199+25_1199+44del
NR_148395.2:n.1458+25_1458+44del
NR_148396.2:n.1092+25_1092+44del
NR_148397.2:n.1356+25_1356+44del
NR_148398.2:n.1311+25_1311+44del
NR_148399.2:n.1698+25_1698+44del
NR_148400.2:n.1297+25_1297+44del
Search 100 bp 5'
Search 100 bp 3'