Canonical Allele Identifier: CA2573144010
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1405258
ClinVar RCV Id: RCV001903667
dbSNP Id: rs2131591743

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131506394_131506395del , CM000671.2:g.131506394_131506395del GRCh38
NC_000009.11:g.134381781_134381782del , CM000671.1:g.134381781_134381782del GRCh37
NC_000009.10:g.133371602_133371603del NCBI36
NG_008896.1:g.8493_8494del
NG_008896.2:g.8493_8494del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.68-9_68-8del ENSP00000343034.7:n.68-9_68-8del
ENST00000404875.7:n.339-9_339-8del
ENST00000423007.6:c.230-18_230-17del ENSP00000404119.2:n.230-18_230-17del
ENST00000677295.2:c.*306-9_*306-8del ENSP00000504346.2:n.*306-9_*306-8del
ENST00000678264.2:c.*413-9_*413-8del ENSP00000503157.2:n.*413-9_*413-8del
ENST00000678768.2:n.197-9_197-8del
ENST00000678942.2:c.122+2054_122+2055del ENSP00000504690.2:n.122+2054_122+2055del
ENST00000682070.1:n.427-9_427-8del
ENST00000682813.1:n.232-9_232-8del
ENST00000683229.1:c.-29-2517_-29-2516del ENSP00000506964.1:n.-29-2517_-29-2516del
ENST00000683392.1:n.404-9_404-8del
ENST00000683712.1:n.367-9_367-8del
ENST00000683900.1:n.1397_1398del
ENST00000684579.1:n.412-9_412-8del
ENST00000341012.12:c.68-9_68-8del ENSP00000343034.7:n.68-9_68-8del
ENST00000372220.5:c.-146+3321_-146+3322del ENSP00000361294.5:n.-146+3321_-146+3322del
ENST00000372228.9:c.230-9_230-8del ENSP00000361302.3:n.230-9_230-8del
ENST00000402686.8:c.230-9_230-8del MANE Select ENSP00000385797.4:n.230-9_230-8del
ENST00000415075.6:c.123-9_123-8del ENSP00000405149.2:n.123-9_123-8del
ENST00000418774.6:c.161-9_161-8del ENSP00000390737.2:n.161-9_161-8del
ENST00000430619.2:c.-80-9_-80-8del ENSP00000402083.2:n.-80-9_-80-8del
ENST00000483472.2:n.198-9_198-8del
ENST00000676640.1:c.230-9_230-8del ENSP00000503281.1:n.230-9_230-8del
ENST00000676803.1:c.-127+3321_-127+3322del ENSP00000503093.1:n.-127+3321_-127+3322del
ENST00000676835.1:c.-122-9_-122-8del ENSP00000502911.1:n.-122-9_-122-8del
ENST00000676915.1:c.230-9_230-8del ENSP00000504628.1:n.230-9_230-8del
ENST00000677028.1:c.68-9_68-8del ENSP00000503896.1:n.68-9_68-8del
ENST00000677029.1:c.-80-9_-80-8del ENSP00000502936.1:n.-80-9_-80-8del
ENST00000677099.1:c.123-974_123-973del ENSP00000504553.1:n.123-974_123-973del
ENST00000677167.1:c.230-9_230-8del ENSP00000503307.1:n.230-9_230-8del
ENST00000677216.1:c.-122-9_-122-8del ENSP00000503772.1:n.-122-9_-122-8del
ENST00000677293.1:c.-30+3321_-30+3322del ENSP00000504278.1:n.-30+3321_-30+3322del
ENST00000677295.1:c.68-9_68-8del ENSP00000504346.1:n.68-9_68-8del
ENST00000677586.1:n.130-9_130-8del
ENST00000677626.1:c.68-9_68-8del ENSP00000503552.1:n.68-9_68-8del
ENST00000677677.1:n.190-9_190-8del
ENST00000677729.1:c.230-9_230-8del ENSP00000503581.1:n.230-9_230-8del
ENST00000677853.1:c.68-9_68-8del ENSP00000503488.1:n.68-9_68-8del
ENST00000678264.1:c.230-9_230-8del ENSP00000503157.1:n.230-9_230-8del
ENST00000678303.1:c.123-9_123-8del ENSP00000503696.1:n.123-9_123-8del
ENST00000678366.1:c.*413-9_*413-8del ENSP00000504353.1:n.*413-9_*413-8del
ENST00000678546.1:c.68-9_68-8del ENSP00000503062.1:n.68-9_68-8del
ENST00000678548.1:c.123-9_123-8del ENSP00000503934.1:n.123-9_123-8del
ENST00000678626.1:n.69-9_69-8del
ENST00000678707.1:n.127-9_127-8del
ENST00000678739.1:c.*288-9_*288-8del ENSP00000503806.1:n.*288-9_*288-8del
ENST00000678785.1:c.68-9_68-8del ENSP00000504231.1:n.68-9_68-8del
ENST00000678833.1:c.230-9_230-8del ENSP00000503893.1:n.230-9_230-8del
ENST00000679023.1:c.68-9_68-8del ENSP00000503718.1:n.68-9_68-8del
ENST00000679111.1:c.230-9_230-8del ENSP00000504257.1:n.230-9_230-8del
ENST00000679189.1:c.-71-974_-71-973del ENSP00000503356.1:n.-71-974_-71-973del
ENST00000679221.1:c.-122-9_-122-8del ENSP00000504422.1:n.-122-9_-122-8del
ENST00000341012.11:c.68-9_68-8del ENSP00000343034.7:n.68-9_68-8del
ENST00000372228.7:c.230-9_230-8del ENSP00000361302.3:n.230-9_230-8del
ENST00000402686.7:c.230-9_230-8del ENSP00000385797.3:n.230-9_230-8del
ENST00000404875.6:c.-122-9_-122-8del ENSP00000384531.2:n.-122-9_-122-8del
ENST00000415075.5:c.-122-9_-122-8del ENSP00000405149.1:n.-122-9_-122-8del
ENST00000418774.5:c.230-9_230-8del ENSP00000390737.1:n.230-9_230-8del
ENST00000423007.5:c.230-9_230-8del ENSP00000404119.1:n.230-9_230-8del
ENST00000430619.1:c.-122-9_-122-8del ENSP00000402083.1:n.-122-9_-122-8del
ENST00000441334.5:c.-122-9_-122-8del ENSP00000395060.1:n.-122-9_-122-8del
ENST00000448212.5:c.68-9_68-8del ENSP00000403736.1:n.68-9_68-8del
ENST00000483472.1:n.198-9_198-8del
NM_001077365.1:c.230-9_230-8del NP_001070833.1:n.230-9_230-8del
NM_001077366.1:c.68-9_68-8del NP_001070834.1:n.68-9_68-8del
NM_001136113.1:c.230-9_230-8del NP_001129585.1:n.230-9_230-8del
NM_001136114.1:c.-122-9_-122-8del NP_001129586.1:n.-122-9_-122-8del
NM_007171.3:c.230-9_230-8del NP_009102.3:n.230-9_230-8del
XM_005272156.1:c.230-9_230-8del XP_005272213.1:n.230-9_230-8del
XM_005272158.1:c.68-9_68-8del XP_005272215.1:n.68-9_68-8del
XM_005272159.1:c.-122-9_-122-8del XP_005272216.1:n.-122-9_-122-8del
XM_005272162.1:c.-1170-9_-1170-8del XP_005272219.1:n.-1170-9_-1170-8del
XM_006716932.1:c.-122-9_-122-8del XP_006716995.1:n.-122-9_-122-8del
XM_011518140.1:c.230-9_230-8del XP_011516442.1:n.230-9_230-8del
XM_011518141.1:c.230-9_230-8del XP_011516443.1:n.230-9_230-8del
XM_011518142.1:c.68-9_68-8del XP_011516444.1:n.68-9_68-8del
XM_011518143.1:c.123-9_123-8del XP_011516445.1:n.123-9_123-8del
XM_011518144.1:c.230-9_230-8del XP_011516446.1:n.230-9_230-8del
XM_011518145.1:c.-80-9_-80-8del XP_011516447.1:n.-80-9_-80-8del
XM_011518146.1:c.123-9_123-8del XP_011516448.1:n.123-9_123-8del
XR_929703.1:n.406-9_406-8del
NM_001353193.1:c.230-9_230-8del NP_001340122.1:n.230-9_230-8del
NM_001353194.1:c.68-9_68-8del NP_001340123.1:n.68-9_68-8del
NM_001353195.1:c.-122-9_-122-8del NP_001340124.1:n.-122-9_-122-8del
NM_001353196.1:c.123-9_123-8del NP_001340125.1:n.123-9_123-8del
NM_001353197.1:c.68-9_68-8del NP_001340126.1:n.68-9_68-8del
NM_001353198.1:c.68-9_68-8del NP_001340127.1:n.68-9_68-8del
NM_001353199.1:c.-122-9_-122-8del NP_001340128.1:n.-122-9_-122-8del
NM_001353200.1:c.-80-9_-80-8del NP_001340129.1:n.-80-9_-80-8del
NR_148391.1:n.280-9_280-8del
NR_148392.1:n.432-9_432-8del
NR_148393.1:n.280-9_280-8del
NR_148394.1:n.280-9_280-8del
NR_148395.1:n.432-9_432-8del
NR_148396.1:n.173-9_173-8del
NR_148397.1:n.325-9_325-8del
NR_148398.1:n.280-9_280-8del
NR_148399.1:n.672-9_672-8del
NR_148400.1:n.413-9_413-8del
XM_005272162.3:c.-1170-9_-1170-8del XP_005272219.1:n.-1170-9_-1170-8del
XM_006716932.2:c.-122-9_-122-8del XP_006716995.1:n.-122-9_-122-8del
XM_011518140.2:c.230-9_230-8del XP_011516442.1:n.230-9_230-8del
XM_011518141.2:c.230-9_230-8del XP_011516443.1:n.230-9_230-8del
XM_011518142.2:c.68-9_68-8del XP_011516444.1:n.68-9_68-8del
XM_011518143.2:c.123-9_123-8del XP_011516445.1:n.123-9_123-8del
XM_011518145.2:c.-80-9_-80-8del XP_011516447.1:n.-80-9_-80-8del
XM_017014205.2:c.-973-9_-973-8del XP_016869694.1:n.-973-9_-973-8del
XM_024447380.1:c.-760-9_-760-8del XP_024303148.1:n.-760-9_-760-8del
XM_024447381.1:c.-859-9_-859-8del XP_024303149.1:n.-859-9_-859-8del
XM_024447382.1:c.-2566-9_-2566-8del XP_024303150.1:n.-2566-9_-2566-8del
XR_001746160.2:n.400-9_400-8del
XR_001746162.2:n.400-9_400-8del
XR_001746164.1:n.325-9_325-8del
XR_001746166.2:n.354-9_354-8del
NM_001077365.2:c.230-9_230-8del MANE Select NP_001070833.1:n.230-9_230-8del
NM_001077366.2:c.68-9_68-8del NP_001070834.1:n.68-9_68-8del
NM_001136113.2:c.230-9_230-8del NP_001129585.1:n.230-9_230-8del
NM_001136114.2:c.-122-9_-122-8del NP_001129586.1:n.-122-9_-122-8del
NM_001353193.2:c.230-9_230-8del NP_001340122.2:n.230-9_230-8del
NM_001353194.2:c.68-9_68-8del NP_001340123.1:n.68-9_68-8del
NM_001353195.2:c.-122-9_-122-8del NP_001340124.1:n.-122-9_-122-8del
NM_001353196.2:c.123-9_123-8del NP_001340125.1:n.123-9_123-8del
NM_001353197.2:c.68-9_68-8del NP_001340126.2:n.68-9_68-8del
NM_001353198.2:c.68-9_68-8del NP_001340127.2:n.68-9_68-8del
NM_001353199.2:c.-122-9_-122-8del NP_001340128.2:n.-122-9_-122-8del
NM_001353200.2:c.-80-9_-80-8del NP_001340129.1:n.-80-9_-80-8del
NM_001374689.1:c.68-9_68-8del NP_001361618.1:n.68-9_68-8del
NM_001374690.1:c.230-9_230-8del NP_001361619.1:n.230-9_230-8del
NM_001374691.1:c.-71-974_-71-973del NP_001361620.1:n.-71-974_-71-973del
NM_001374692.1:c.-71-974_-71-973del NP_001361621.1:n.-71-974_-71-973del
NM_001374693.1:c.68-9_68-8del NP_001361622.1:n.68-9_68-8del
NM_001374695.1:c.-30+2054_-30+2055del NP_001361624.1:n.-30+2054_-30+2055del
NM_007171.4:c.230-9_230-8del NP_009102.4:n.230-9_230-8del
NR_148391.2:n.264-9_264-8del
NR_148392.2:n.416-9_416-8del
NR_148393.2:n.264-9_264-8del
NR_148394.2:n.264-9_264-8del
NR_148395.2:n.416-9_416-8del
NR_148396.2:n.157-9_157-8del
NR_148397.2:n.309-9_309-8del
NR_148398.2:n.264-9_264-8del
NR_148399.2:n.656-9_656-8del
NR_148400.2:n.397-9_397-8del