Canonical Allele Identifier: CA2786114785
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131523515del , CM000671.2:g.131523515del GRCh38
NC_000009.11:g.134398902del , CM000671.1:g.134398902del GRCh37
NC_000009.10:g.133388723del NCBI36
NG_008896.1:g.25614del
NG_008896.2:g.25614del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.*409del ENSP00000343034.7:n.*409del
ENST00000404875.7:n.3127del
ENST00000677295.2:c.*2931del ENSP00000504346.2:n.*2931del
ENST00000678264.2:c.*2770del ENSP00000503157.2:n.*2770del
ENST00000682070.1:n.2897del
ENST00000682639.1:c.292del
ENST00000682813.1:n.2984del
ENST00000683231.1:c.437del
ENST00000683392.1:n.5179del
ENST00000683900.1:n.4487del
ENST00000684062.1:n.3253del
ENST00000684399.1:c.402del
ENST00000684579.1:n.4433del
ENST00000341012.12:c.*409del ENSP00000343034.7:n.*409del
ENST00000372220.5:c.*409del ENSP00000361294.5:n.*409del
ENST00000372228.9:c.*409del ENSP00000361302.3:n.*409del
ENST00000402686.8:c.*409del MANE Select ENSP00000385797.4:n.*409del
ENST00000676640.1:c.*409del ENSP00000503281.1:n.*409del
ENST00000676803.1:c.*409del ENSP00000503093.1:n.*409del
ENST00000676835.1:c.*1802del ENSP00000502911.1:n.*1802del
ENST00000677295.1:c.*1809del ENSP00000504346.1:n.*1809del
ENST00000677444.1:c.2532del
ENST00000677626.1:c.*409del ENSP00000503552.1:n.*409del
ENST00000677853.1:c.*1595del ENSP00000503488.1:n.*1595del
ENST00000678546.1:c.*2532del ENSP00000503062.1:n.*2532del
ENST00000678548.1:c.*2726del ENSP00000503934.1:n.*2726del
ENST00000678626.1:n.2423del
ENST00000678739.1:c.*2753del ENSP00000503806.1:n.*2753del
ENST00000678833.1:c.*2339del ENSP00000503893.1:n.*2339del
ENST00000679023.1:c.*233del ENSP00000503718.1:n.*233del
ENST00000679076.1:c.2206del
ENST00000679111.1:c.*1343del ENSP00000504257.1:n.*1343del
ENST00000341012.11:c.*409del ENSP00000343034.7:n.*409del
ENST00000372220.4:c.1450del ENSP00000361294.4:n.1450del
ENST00000372228.7:c.*409del ENSP00000361302.3:n.*409del
ENST00000402686.7:c.*409del ENSP00000385797.3:n.*409del
ENST00000404875.6:c.*409del ENSP00000384531.2:n.*409del
ENST00000423007.5:c.*409del ENSP00000404119.1:n.*409del
ENST00000485278.5:n.3137del
NM_001077365.1:c.*409del NP_001070833.1:n.*409del
NM_001077366.1:c.*409del NP_001070834.1:n.*409del
NM_001136113.1:c.*409del NP_001129585.1:n.*409del
NM_001136114.1:c.*409del NP_001129586.1:n.*409del
NM_007171.3:c.*409del NP_009102.3:n.*409del
XM_005272156.1:c.*409del XP_005272213.1:n.*409del
XM_005272158.1:c.*409del XP_005272215.1:n.*409del
XM_005272159.1:c.*409del XP_005272216.1:n.*409del
XM_005272162.1:c.*409del XP_005272219.1:n.*409del
XM_006716932.1:c.*409del XP_006716995.1:n.*409del
XM_011518140.1:c.*409del XP_011516442.1:n.*409del
XM_011518141.1:c.*409del XP_011516443.1:n.*409del
XM_011518142.1:c.*409del XP_011516444.1:n.*409del
XM_011518143.1:c.*409del XP_011516445.1:n.*409del
XM_011518145.1:c.*409del XP_011516447.1:n.*409del
XM_011518147.1:c.*409del XP_011516449.1:n.*409del
XR_929703.1:n.2653del
NM_001353193.1:c.*409del NP_001340122.1:n.*409del
NM_001353194.1:c.*409del NP_001340123.1:n.*409del
NM_001353195.1:c.*409del NP_001340124.1:n.*409del
NM_001353196.1:c.*409del NP_001340125.1:n.*409del
NM_001353197.1:c.*409del NP_001340126.1:n.*409del
NM_001353198.1:c.*409del NP_001340127.1:n.*409del
NM_001353199.1:c.*409del NP_001340128.1:n.*409del
NM_001353200.1:c.*409del NP_001340129.1:n.*409del
NR_148391.1:n.2461del
NR_148392.1:n.2679del
NR_148393.1:n.2776del
NR_148394.1:n.2530del
NR_148395.1:n.2928del
NR_148396.1:n.2562del
NR_148397.1:n.2687del
NR_148398.1:n.2642del
NR_148399.1:n.2992del
NR_148400.1:n.2767del
XM_005272162.3:c.*409del XP_005272219.1:n.*409del
XM_006716932.2:c.*409del XP_006716995.1:n.*409del
XM_011518140.2:c.*409del XP_011516442.1:n.*409del
XM_011518141.2:c.*409del XP_011516443.1:n.*409del
XM_011518142.2:c.*409del XP_011516444.1:n.*409del
XM_011518143.2:c.*409del XP_011516445.1:n.*409del
XM_011518145.2:c.*409del XP_011516447.1:n.*409del
XM_017014205.2:c.*409del XP_016869694.1:n.*409del
XM_024447380.1:c.*409del XP_024303148.1:n.*409del
XM_024447381.1:c.*409del XP_024303149.1:n.*409del
XM_024447382.1:c.*409del XP_024303150.1:n.*409del
XR_001746160.2:n.2581del
XR_001746162.2:n.2962del
XR_001746164.1:n.2679del
XR_001746166.2:n.2798del
NM_001077365.2:c.*409del MANE Select NP_001070833.1:n.*409del
NM_001077366.2:c.*409del NP_001070834.1:n.*409del
NM_001136113.2:c.*409del NP_001129585.1:n.*409del
NM_001136114.2:c.*409del NP_001129586.1:n.*409del
NM_001353193.2:c.*409del NP_001340122.2:n.*409del
NM_001353194.2:c.*409del NP_001340123.1:n.*409del
NM_001353195.2:c.*409del NP_001340124.1:n.*409del
NM_001353196.2:c.*409del NP_001340125.1:n.*409del
NM_001353197.2:c.*409del NP_001340126.2:n.*409del
NM_001353198.2:c.*409del NP_001340127.2:n.*409del
NM_001353199.2:c.*409del NP_001340128.2:n.*409del
NM_001353200.2:c.*409del NP_001340129.1:n.*409del
NM_001374689.1:c.*409del NP_001361618.1:n.*409del
NM_001374690.1:c.*409del NP_001361619.1:n.*409del
NM_001374691.1:c.*409del NP_001361620.1:n.*409del
NM_001374692.1:c.*409del NP_001361621.1:n.*409del
NM_001374693.1:c.*409del NP_001361622.1:n.*409del
NM_001374695.1:c.*409del NP_001361624.1:n.*409del
NM_007171.4:c.*409del NP_009102.4:n.*409del
NR_148391.2:n.2445del
NR_148392.2:n.2663del
NR_148393.2:n.2760del
NR_148394.2:n.2514del
NR_148395.2:n.2912del
NR_148396.2:n.2546del
NR_148397.2:n.2671del
NR_148398.2:n.2626del
NR_148399.2:n.2976del
NR_148400.2:n.2751del