Canonical Allele Identifier: CA200779417
Gene: POMT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131507515_131507516insA , CM000671.2:g.131507515_131507516insA GRCh38
NC_000009.11:g.134382902_134382903insA , CM000671.1:g.134382902_134382903insA GRCh37
NC_000009.10:g.133372723_133372724insA NCBI36
NG_008896.1:g.9614_9615insA
NG_008896.2:g.9614_9615insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.265+1_265+2insA ENSP00000343034.7:n.265+1_265+2insA
ENST00000404875.7:n.536+1_536+2insA
ENST00000423007.6:c.418+1_418+2insA ENSP00000404119.2:n.418+1_418+2insA
ENST00000677295.2:c.*503+1_*503+2insA ENSP00000504346.2:n.*503+1_*503+2insA
ENST00000678264.2:c.*610+1_*610+2insA ENSP00000503157.2:n.*610+1_*610+2insA
ENST00000678942.2:c.123-1396_123-1395insA ENSP00000504690.2:n.123-1396_123-1395insA
ENST00000682070.1:n.624+1_624+2insA
ENST00000682813.1:n.429+1_429+2insA
ENST00000683229.1:c.-29-1396_-29-1395insA ENSP00000506964.1:n.-29-1396_-29-1395insA
ENST00000683392.1:n.1516_1517insA
ENST00000683712.1:n.564+1_564+2insA
ENST00000683900.1:n.1603+1_1603+2insA
ENST00000684579.1:n.610_611insA
ENST00000341012.12:c.265+1_265+2insA ENSP00000343034.7:n.265+1_265+2insA
ENST00000372220.5:c.-146+4442_-146+4443insA ENSP00000361294.5:n.-146+4442_-146+4443insA
ENST00000372228.9:c.427+1_427+2insA ENSP00000361302.3:n.427+1_427+2insA
ENST00000402686.8:c.427+1_427+2insA MANE Select ENSP00000385797.4:n.427+1_427+2insA
ENST00000415075.6:c.*137+1_*137+2insA ENSP00000405149.2:n.*137+1_*137+2insA
ENST00000430619.2:c.-30+1062_-30+1063insA ENSP00000402083.2:n.-30+1062_-30+1063insA
ENST00000676640.1:c.427+1_427+2insA ENSP00000503281.1:n.427+1_427+2insA
ENST00000676803.1:c.-126-2745_-126-2744insA ENSP00000503093.1:n.-126-2745_-126-2744insA
ENST00000676835.1:c.76+1_76+2insA ENSP00000502911.1:n.76+1_76+2insA
ENST00000676915.1:c.280+1062_280+1063insA ENSP00000504628.1:n.280+1062_280+1063insA
ENST00000677028.1:c.265+1_265+2insA ENSP00000503896.1:n.265+1_265+2insA
ENST00000677029.1:c.-30+1062_-30+1063insA ENSP00000502936.1:n.-30+1062_-30+1063insA
ENST00000677099.1:c.*137+1_*137+2insA ENSP00000504553.1:n.*137+1_*137+2insA
ENST00000677167.1:c.427+1_427+2insA ENSP00000503307.1:n.427+1_427+2insA
ENST00000677216.1:c.76+1_76+2insA ENSP00000503772.1:n.76+1_76+2insA
ENST00000677293.1:c.-29-2842_-29-2841insA ENSP00000504278.1:n.-29-2842_-29-2841insA
ENST00000677295.1:c.265+1_265+2insA ENSP00000504346.1:n.265+1_265+2insA
ENST00000677586.1:n.180+1062_180+1063insA
ENST00000677626.1:c.265+1_265+2insA ENSP00000503552.1:n.265+1_265+2insA
ENST00000677677.1:n.387+1_387+2insA
ENST00000677729.1:c.427+1_427+2insA ENSP00000503581.1:n.427+1_427+2insA
ENST00000677853.1:c.265+1_265+2insA ENSP00000503488.1:n.265+1_265+2insA
ENST00000678264.1:c.427+1_427+2insA ENSP00000503157.1:n.427+1_427+2insA
ENST00000678303.1:c.337+1_337+2insA ENSP00000503696.1:n.337+1_337+2insA
ENST00000678366.1:c.*610+1_*610+2insA ENSP00000504353.1:n.*610+1_*610+2insA
ENST00000678546.1:c.265+1_265+2insA ENSP00000503062.1:n.265+1_265+2insA
ENST00000678548.1:c.*137+1_*137+2insA ENSP00000503934.1:n.*137+1_*137+2insA
ENST00000678626.1:n.119+1062_119+1063insA
ENST00000678707.1:n.177+1062_177+1063insA
ENST00000678739.1:c.*485+1_*485+2insA ENSP00000503806.1:n.*485+1_*485+2insA
ENST00000678785.1:c.265+1_265+2insA ENSP00000504231.1:n.265+1_265+2insA
ENST00000678833.1:c.427+1_427+2insA ENSP00000503893.1:n.427+1_427+2insA
ENST00000679023.1:c.265+1_265+2insA ENSP00000503718.1:n.265+1_265+2insA
ENST00000679076.1:c.138+1_138+2insA
ENST00000679111.1:c.427+1_427+2insA ENSP00000504257.1:n.427+1_427+2insA
ENST00000679189.1:c.76+1_76+2insA ENSP00000503356.1:n.76+1_76+2insA
ENST00000341012.11:c.265+1_265+2insA ENSP00000343034.7:n.265+1_265+2insA
ENST00000372228.7:c.427+1_427+2insA ENSP00000361302.3:n.427+1_427+2insA
ENST00000402686.7:c.427+1_427+2insA ENSP00000385797.3:n.427+1_427+2insA
ENST00000404875.6:c.76+1_76+2insA ENSP00000384531.2:n.76+1_76+2insA
ENST00000415075.5:c.76+1_76+2insA ENSP00000405149.1:n.76+1_76+2insA
ENST00000423007.5:c.427+1_427+2insA ENSP00000404119.1:n.427+1_427+2insA
ENST00000430619.1:c.76+1_76+2insA ENSP00000402083.1:n.76+1_76+2insA
ENST00000441334.5:c.76+1_76+2insA ENSP00000395060.1:n.76+1_76+2insA
ENST00000448212.5:c.265+1_265+2insA ENSP00000403736.1:n.265+1_265+2insA
NM_001077365.1:c.427+1_427+2insA NP_001070833.1:n.427+1_427+2insA
NM_001077366.1:c.265+1_265+2insA NP_001070834.1:n.265+1_265+2insA
NM_001136113.1:c.427+1_427+2insA NP_001129585.1:n.427+1_427+2insA
NM_001136114.1:c.76+1_76+2insA NP_001129586.1:n.76+1_76+2insA
NM_007171.3:c.427+1_427+2insA NP_009102.3:n.427+1_427+2insA
XM_005272156.1:c.427+1_427+2insA XP_005272213.1:n.427+1_427+2insA
XM_005272158.1:c.265+1_265+2insA XP_005272215.1:n.265+1_265+2insA
XM_005272159.1:c.76+1_76+2insA XP_005272216.1:n.76+1_76+2insA
XM_005272162.1:c.-973+1_-973+2insA XP_005272219.1:n.-973+1_-973+2insA
XM_006716932.1:c.76+1_76+2insA XP_006716995.1:n.76+1_76+2insA
XM_011518140.1:c.280+1062_280+1063insA XP_011516442.1:n.280+1062_280+1063insA
XM_011518141.1:c.280+1062_280+1063insA XP_011516443.1:n.280+1062_280+1063insA
XM_011518142.1:c.118+1062_118+1063insA XP_011516444.1:n.118+1062_118+1063insA
XM_011518143.1:c.173+1062_173+1063insA XP_011516445.1:n.173+1062_173+1063insA
XM_011518144.1:c.427+1_427+2insA XP_011516446.1:n.427+1_427+2insA
XM_011518145.1:c.-30+1062_-30+1063insA XP_011516447.1:n.-30+1062_-30+1063insA
XM_011518146.1:c.173+1062_173+1063insA XP_011516448.1:n.173+1062_173+1063insA
XR_929703.1:n.603+1_603+2insA
NM_001353193.1:c.427+1_427+2insA NP_001340122.1:n.427+1_427+2insA
NM_001353194.1:c.265+1_265+2insA NP_001340123.1:n.265+1_265+2insA
NM_001353195.1:c.76+1_76+2insA NP_001340124.1:n.76+1_76+2insA
NM_001353196.1:c.337+1_337+2insA NP_001340125.1:n.337+1_337+2insA
NM_001353197.1:c.265+1_265+2insA NP_001340126.1:n.265+1_265+2insA
NM_001353198.1:c.265+1_265+2insA NP_001340127.1:n.265+1_265+2insA
NM_001353199.1:c.76+1_76+2insA NP_001340128.1:n.76+1_76+2insA
NM_001353200.1:c.-30+1062_-30+1063insA NP_001340129.1:n.-30+1062_-30+1063insA
NR_148391.1:n.477+1_477+2insA
NR_148392.1:n.629+1_629+2insA
NR_148393.1:n.477+1_477+2insA
NR_148394.1:n.477+1_477+2insA
NR_148395.1:n.629+1_629+2insA
NR_148396.1:n.370+1_370+2insA
NR_148397.1:n.522+1_522+2insA
NR_148398.1:n.477+1_477+2insA
NR_148399.1:n.869+1_869+2insA
NR_148400.1:n.463+1062_463+1063insA
XM_005272162.3:c.-973+1_-973+2insA XP_005272219.1:n.-973+1_-973+2insA
XM_006716932.2:c.76+1_76+2insA XP_006716995.1:n.76+1_76+2insA
XM_011518140.2:c.280+1062_280+1063insA XP_011516442.1:n.280+1062_280+1063insA
XM_011518141.2:c.280+1062_280+1063insA XP_011516443.1:n.280+1062_280+1063insA
XM_011518142.2:c.118+1062_118+1063insA XP_011516444.1:n.118+1062_118+1063insA
XM_011518143.2:c.173+1062_173+1063insA XP_011516445.1:n.173+1062_173+1063insA
XM_011518145.2:c.-30+1062_-30+1063insA XP_011516447.1:n.-30+1062_-30+1063insA
XM_017014205.2:c.-776+1_-776+2insA XP_016869694.1:n.-776+1_-776+2insA
XM_024447380.1:c.-710+1062_-710+1063insA XP_024303148.1:n.-710+1062_-710+1063insA
XM_024447381.1:c.-662+1_-662+2insA XP_024303149.1:n.-662+1_-662+2insA
XM_024447382.1:c.-2368_-2367insA XP_024303150.1:n.-2368_-2367insA
XR_001746160.2:n.597+1_597+2insA
XR_001746162.2:n.597+1_597+2insA
XR_001746164.1:n.375+1062_375+1063insA
XR_001746166.2:n.551+1_551+2insA
NM_001077365.2:c.427+1_427+2insA MANE Select NP_001070833.1:n.427+1_427+2insA
NM_001077366.2:c.265+1_265+2insA NP_001070834.1:n.265+1_265+2insA
NM_001136113.2:c.427+1_427+2insA NP_001129585.1:n.427+1_427+2insA
NM_001136114.2:c.76+1_76+2insA NP_001129586.1:n.76+1_76+2insA
NM_001353193.2:c.427+1_427+2insA NP_001340122.2:n.427+1_427+2insA
NM_001353194.2:c.265+1_265+2insA NP_001340123.1:n.265+1_265+2insA
NM_001353195.2:c.76+1_76+2insA NP_001340124.1:n.76+1_76+2insA
NM_001353196.2:c.337+1_337+2insA NP_001340125.1:n.337+1_337+2insA
NM_001353197.2:c.265+1_265+2insA NP_001340126.2:n.265+1_265+2insA
NM_001353198.2:c.265+1_265+2insA NP_001340127.2:n.265+1_265+2insA
NM_001353199.2:c.76+1_76+2insA NP_001340128.2:n.76+1_76+2insA
NM_001353200.2:c.-30+1062_-30+1063insA NP_001340129.1:n.-30+1062_-30+1063insA
NM_001374689.1:c.265+1_265+2insA NP_001361618.1:n.265+1_265+2insA
NM_001374690.1:c.427+1_427+2insA NP_001361619.1:n.427+1_427+2insA
NM_001374691.1:c.76+1_76+2insA NP_001361620.1:n.76+1_76+2insA
NM_001374692.1:c.76+1_76+2insA NP_001361621.1:n.76+1_76+2insA
NM_001374693.1:c.265+1_265+2insA NP_001361622.1:n.265+1_265+2insA
NM_001374695.1:c.-29-1396_-29-1395insA NP_001361624.1:n.-29-1396_-29-1395insA
NM_007171.4:c.427+1_427+2insA NP_009102.4:n.427+1_427+2insA
NR_148391.2:n.461+1_461+2insA
NR_148392.2:n.613+1_613+2insA
NR_148393.2:n.461+1_461+2insA
NR_148394.2:n.461+1_461+2insA
NR_148395.2:n.613+1_613+2insA
NR_148396.2:n.354+1_354+2insA
NR_148397.2:n.506+1_506+2insA
NR_148398.2:n.461+1_461+2insA
NR_148399.2:n.853+1_853+2insA
NR_148400.2:n.447+1062_447+1063insA
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