Canonical Allele Identifier: CA2692221041
Gene: POMT1 HGNC NCBI

Linked Data

gnomAD v4: 9-131522863-CAA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131522864_131522865del , CM000671.2:g.131522864_131522865del GRCh38
NC_000009.11:g.134398251_134398252del , CM000671.1:g.134398251_134398252del GRCh37
NC_000009.10:g.133388072_133388073del NCBI36
NG_008896.1:g.24963_24964del
NG_008896.2:g.24963_24964del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1842-68_1842-67del ENSP00000343034.7:n.1842-68_1842-67del
ENST00000404875.7:n.2544-68_2544-67del
ENST00000423007.6:c.2061-68_2061-67del ENSP00000404119.2:n.2061-68_2061-67del
ENST00000677295.2:c.*2348-68_*2348-67del ENSP00000504346.2:n.*2348-68_*2348-67del
ENST00000678264.2:c.*2187-68_*2187-67del ENSP00000503157.2:n.*2187-68_*2187-67del
ENST00000682070.1:n.2314-68_2314-67del
ENST00000682813.1:n.2408-75_2408-74del
ENST00000683392.1:n.4596-68_4596-67del
ENST00000683712.1:n.2409-68_2409-67del
ENST00000683900.1:n.3904-68_3904-67del
ENST00000684062.1:n.2670-68_2670-67del
ENST00000684579.1:n.3850-68_3850-67del
ENST00000341012.12:c.1842-68_1842-67del ENSP00000343034.7:n.1842-68_1842-67del
ENST00000372220.5:c.873-68_873-67del ENSP00000361294.5:n.873-68_873-67del
ENST00000372228.9:c.2070-68_2070-67del ENSP00000361302.3:n.2070-68_2070-67del
ENST00000402686.8:c.2004-68_2004-67del MANE Select ENSP00000385797.4:n.2004-68_2004-67del
ENST00000676640.1:c.2004-68_2004-67del ENSP00000503281.1:n.2004-68_2004-67del
ENST00000676803.1:c.1065-68_1065-67del ENSP00000503093.1:n.1065-68_1065-67del
ENST00000676835.1:c.*1219-68_*1219-67del ENSP00000502911.1:n.*1219-68_*1219-67del
ENST00000677029.1:c.1548-68_1548-67del ENSP00000502936.1:n.1548-68_1548-67del
ENST00000677099.1:c.*1714-68_*1714-67del ENSP00000504553.1:n.*1714-68_*1714-67del
ENST00000677216.1:c.1653-68_1653-67del ENSP00000503772.1:n.1653-68_1653-67del
ENST00000677221.1:n.1029-68_1029-67del
ENST00000677295.1:c.*1226-68_*1226-67del ENSP00000504346.1:n.*1226-68_*1226-67del
ENST00000677444.1:c.1949-68_1949-67del
ENST00000677586.1:n.1371-68_1371-67del
ENST00000677626.1:c.1653-68_1653-67del ENSP00000503552.1:n.1653-68_1653-67del
ENST00000677853.1:c.*1012-68_*1012-67del ENSP00000503488.1:n.*1012-68_*1012-67del
ENST00000678264.1:c.*1381-68_*1381-67del ENSP00000503157.1:n.*1381-68_*1381-67del
ENST00000678303.1:c.1914-68_1914-67del ENSP00000503696.1:n.1914-68_1914-67del
ENST00000678366.1:c.*2253-68_*2253-67del ENSP00000504353.1:n.*2253-68_*2253-67del
ENST00000678546.1:c.*1949-68_*1949-67del ENSP00000503062.1:n.*1949-68_*1949-67del
ENST00000678548.1:c.*2143-68_*2143-67del ENSP00000503934.1:n.*2143-68_*2143-67del
ENST00000678626.1:n.1840-68_1840-67del
ENST00000678739.1:c.*2170-68_*2170-67del ENSP00000503806.1:n.*2170-68_*2170-67del
ENST00000678833.1:c.*1756-68_*1756-67del ENSP00000503893.1:n.*1756-68_*1756-67del
ENST00000679023.1:c.1842-68_1842-67del ENSP00000503718.1:n.1842-68_1842-67del
ENST00000679076.1:c.1623-68_1623-67del
ENST00000679111.1:c.*760-68_*760-67del ENSP00000504257.1:n.*760-68_*760-67del
ENST00000679189.1:c.1653-68_1653-67del ENSP00000503356.1:n.1653-68_1653-67del
ENST00000341012.11:c.1842-68_1842-67del ENSP00000343034.7:n.1842-68_1842-67del
ENST00000372220.4:c.867-68_867-67del ENSP00000361294.4:n.867-68_867-67del
ENST00000372228.7:c.2070-68_2070-67del ENSP00000361302.3:n.2070-68_2070-67del
ENST00000402686.7:c.2004-68_2004-67del ENSP00000385797.3:n.2004-68_2004-67del
ENST00000404875.6:c.1653-68_1653-67del ENSP00000384531.2:n.1653-68_1653-67del
ENST00000423007.5:c.2004-68_2004-67del ENSP00000404119.1:n.2004-68_2004-67del
ENST00000485278.5:n.2554-68_2554-67del
NM_001077365.1:c.2004-68_2004-67del NP_001070833.1:n.2004-68_2004-67del
NM_001077366.1:c.1842-68_1842-67del NP_001070834.1:n.1842-68_1842-67del
NM_001136113.1:c.2004-68_2004-67del NP_001129585.1:n.2004-68_2004-67del
NM_001136114.1:c.1653-68_1653-67del NP_001129586.1:n.1653-68_1653-67del
NM_007171.3:c.2070-68_2070-67del NP_009102.3:n.2070-68_2070-67del
XM_005272156.1:c.2070-68_2070-67del XP_005272213.1:n.2070-68_2070-67del
XM_005272158.1:c.1908-68_1908-67del XP_005272215.1:n.1908-68_1908-67del
XM_005272159.1:c.1719-68_1719-67del XP_005272216.1:n.1719-68_1719-67del
XM_005272162.1:c.873-68_873-67del XP_005272219.1:n.873-68_873-67del
XM_006716932.1:c.1719-68_1719-67del XP_006716995.1:n.1719-68_1719-67del
XM_011518140.1:c.1923-68_1923-67del XP_011516442.1:n.1923-68_1923-67del
XM_011518141.1:c.1857-68_1857-67del XP_011516443.1:n.1857-68_1857-67del
XM_011518142.1:c.1761-68_1761-67del XP_011516444.1:n.1761-68_1761-67del
XM_011518143.1:c.1755-68_1755-67del XP_011516445.1:n.1755-68_1755-67del
XM_011518145.1:c.1614-68_1614-67del XP_011516447.1:n.1614-68_1614-67del
XM_011518147.1:c.942-68_942-67del XP_011516449.1:n.942-68_942-67del
XR_929703.1:n.2246-68_2246-67del
NM_001353193.1:c.2070-68_2070-67del NP_001340122.1:n.2070-68_2070-67del
NM_001353194.1:c.1842-68_1842-67del NP_001340123.1:n.1842-68_1842-67del
NM_001353195.1:c.1653-68_1653-67del NP_001340124.1:n.1653-68_1653-67del
NM_001353196.1:c.1914-68_1914-67del NP_001340125.1:n.1914-68_1914-67del
NM_001353197.1:c.1908-68_1908-67del NP_001340126.1:n.1908-68_1908-67del
NM_001353198.1:c.1908-68_1908-67del NP_001340127.1:n.1908-68_1908-67del
NM_001353199.1:c.1719-68_1719-67del NP_001340128.1:n.1719-68_1719-67del
NM_001353200.1:c.1548-68_1548-67del NP_001340129.1:n.1548-68_1548-67del
NR_148391.1:n.2054-68_2054-67del
NR_148392.1:n.2272-68_2272-67del
NR_148393.1:n.2193-68_2193-67del
NR_148394.1:n.1947-68_1947-67del
NR_148395.1:n.2345-68_2345-67del
NR_148396.1:n.1979-68_1979-67del
NR_148397.1:n.2104-68_2104-67del
NR_148398.1:n.2059-68_2059-67del
NR_148399.1:n.2585-68_2585-67del
NR_148400.1:n.2184-68_2184-67del
XM_005272162.3:c.873-68_873-67del XP_005272219.1:n.873-68_873-67del
XM_006716932.2:c.1719-68_1719-67del XP_006716995.1:n.1719-68_1719-67del
XM_011518140.2:c.1923-68_1923-67del XP_011516442.1:n.1923-68_1923-67del
XM_011518141.2:c.1857-68_1857-67del XP_011516443.1:n.1857-68_1857-67del
XM_011518142.2:c.1761-68_1761-67del XP_011516444.1:n.1761-68_1761-67del
XM_011518143.2:c.1755-68_1755-67del XP_011516445.1:n.1755-68_1755-67del
XM_011518145.2:c.1614-68_1614-67del XP_011516447.1:n.1614-68_1614-67del
XM_017014205.2:c.873-68_873-67del XP_016869694.1:n.873-68_873-67del
XM_024447380.1:c.873-68_873-67del XP_024303148.1:n.873-68_873-67del
XM_024447381.1:c.1179-68_1179-67del XP_024303149.1:n.1179-68_1179-67del
XM_024447382.1:c.873-68_873-67del XP_024303150.1:n.873-68_873-67del
XR_001746160.2:n.2174-68_2174-67del
XR_001746162.2:n.2379-68_2379-67del
XR_001746164.1:n.2096-68_2096-67del
XR_001746166.2:n.2391-68_2391-67del
NM_001077365.2:c.2004-68_2004-67del MANE Select NP_001070833.1:n.2004-68_2004-67del
NM_001077366.2:c.1842-68_1842-67del NP_001070834.1:n.1842-68_1842-67del
NM_001136113.2:c.2004-68_2004-67del NP_001129585.1:n.2004-68_2004-67del
NM_001136114.2:c.1653-68_1653-67del NP_001129586.1:n.1653-68_1653-67del
NM_001353193.2:c.2070-68_2070-67del NP_001340122.2:n.2070-68_2070-67del
NM_001353194.2:c.1842-68_1842-67del NP_001340123.1:n.1842-68_1842-67del
NM_001353195.2:c.1653-68_1653-67del NP_001340124.1:n.1653-68_1653-67del
NM_001353196.2:c.1914-68_1914-67del NP_001340125.1:n.1914-68_1914-67del
NM_001353197.2:c.1908-68_1908-67del NP_001340126.2:n.1908-68_1908-67del
NM_001353198.2:c.1908-68_1908-67del NP_001340127.2:n.1908-68_1908-67del
NM_001353199.2:c.1719-68_1719-67del NP_001340128.2:n.1719-68_1719-67del
NM_001353200.2:c.1548-68_1548-67del NP_001340129.1:n.1548-68_1548-67del
NM_001374689.1:c.1992-68_1992-67del NP_001361618.1:n.1992-68_1992-67del
NM_001374690.1:c.1785-68_1785-67del NP_001361619.1:n.1785-68_1785-67del
NM_001374691.1:c.1653-68_1653-67del NP_001361620.1:n.1653-68_1653-67del
NM_001374692.1:c.1653-68_1653-67del NP_001361621.1:n.1653-68_1653-67del
NM_001374693.1:c.1653-68_1653-67del NP_001361622.1:n.1653-68_1653-67del
NM_001374695.1:c.1614-68_1614-67del NP_001361624.1:n.1614-68_1614-67del
NM_007171.4:c.2070-68_2070-67del NP_009102.4:n.2070-68_2070-67del
NR_148391.2:n.2038-68_2038-67del
NR_148392.2:n.2256-68_2256-67del
NR_148393.2:n.2177-68_2177-67del
NR_148394.2:n.1931-68_1931-67del
NR_148395.2:n.2329-68_2329-67del
NR_148396.2:n.1963-68_1963-67del
NR_148397.2:n.2088-68_2088-67del
NR_148398.2:n.2043-68_2043-67del
NR_148399.2:n.2569-68_2569-67del
NR_148400.2:n.2168-68_2168-67del
Search 100 bp 5'
Search 100 bp 3'