Canonical Allele Identifier: CA2692220893
Gene: POMT1 HGNC NCBI

Linked Data

gnomAD v4: 9-131522815-AAGGCAGAACCCC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131522820_131522831del , CM000671.2:g.131522820_131522831del GRCh38
NC_000009.11:g.134398207_134398218del , CM000671.1:g.134398207_134398218del GRCh37
NC_000009.10:g.133388028_133388039del NCBI36
NG_008896.1:g.24919_24930del
NG_008896.2:g.24919_24930del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1842-112_1842-101del ENSP00000343034.7:n.1842-112_1842-101del
ENST00000404875.7:n.2544-112_2544-101del
ENST00000423007.6:c.2061-112_2061-101del ENSP00000404119.2:n.2061-112_2061-101del
ENST00000677295.2:c.*2348-112_*2348-101del ENSP00000504346.2:n.*2348-112_*2348-101del
ENST00000678264.2:c.*2187-112_*2187-101del ENSP00000503157.2:n.*2187-112_*2187-101del
ENST00000682070.1:n.2314-112_2314-101del
ENST00000682813.1:n.2408-119_2408-108del
ENST00000683392.1:n.4596-112_4596-101del
ENST00000683712.1:n.2409-112_2409-101del
ENST00000683900.1:n.3904-112_3904-101del
ENST00000684062.1:n.2670-112_2670-101del
ENST00000684579.1:n.3850-112_3850-101del
ENST00000341012.12:c.1842-112_1842-101del ENSP00000343034.7:n.1842-112_1842-101del
ENST00000372220.5:c.873-112_873-101del ENSP00000361294.5:n.873-112_873-101del
ENST00000372228.9:c.2070-112_2070-101del ENSP00000361302.3:n.2070-112_2070-101del
ENST00000402686.8:c.2004-112_2004-101del MANE Select ENSP00000385797.4:n.2004-112_2004-101del
ENST00000676640.1:c.2004-112_2004-101del ENSP00000503281.1:n.2004-112_2004-101del
ENST00000676803.1:c.1065-112_1065-101del ENSP00000503093.1:n.1065-112_1065-101del
ENST00000676835.1:c.*1219-112_*1219-101del ENSP00000502911.1:n.*1219-112_*1219-101del
ENST00000677029.1:c.1548-112_1548-101del ENSP00000502936.1:n.1548-112_1548-101del
ENST00000677099.1:c.*1714-112_*1714-101del ENSP00000504553.1:n.*1714-112_*1714-101del
ENST00000677216.1:c.1653-112_1653-101del ENSP00000503772.1:n.1653-112_1653-101del
ENST00000677221.1:n.1029-112_1029-101del
ENST00000677295.1:c.*1226-112_*1226-101del ENSP00000504346.1:n.*1226-112_*1226-101del
ENST00000677444.1:c.1949-112_1949-101del
ENST00000677586.1:n.1371-112_1371-101del
ENST00000677626.1:c.1653-112_1653-101del ENSP00000503552.1:n.1653-112_1653-101del
ENST00000677853.1:c.*1012-112_*1012-101del ENSP00000503488.1:n.*1012-112_*1012-101del
ENST00000678264.1:c.*1381-112_*1381-101del ENSP00000503157.1:n.*1381-112_*1381-101del
ENST00000678303.1:c.1914-112_1914-101del ENSP00000503696.1:n.1914-112_1914-101del
ENST00000678366.1:c.*2253-112_*2253-101del ENSP00000504353.1:n.*2253-112_*2253-101del
ENST00000678546.1:c.*1949-112_*1949-101del ENSP00000503062.1:n.*1949-112_*1949-101del
ENST00000678548.1:c.*2143-112_*2143-101del ENSP00000503934.1:n.*2143-112_*2143-101del
ENST00000678626.1:n.1840-112_1840-101del
ENST00000678739.1:c.*2170-112_*2170-101del ENSP00000503806.1:n.*2170-112_*2170-101del
ENST00000678833.1:c.*1756-112_*1756-101del ENSP00000503893.1:n.*1756-112_*1756-101del
ENST00000679023.1:c.1842-112_1842-101del ENSP00000503718.1:n.1842-112_1842-101del
ENST00000679076.1:c.1623-112_1623-101del
ENST00000679111.1:c.*760-112_*760-101del ENSP00000504257.1:n.*760-112_*760-101del
ENST00000679189.1:c.1653-112_1653-101del ENSP00000503356.1:n.1653-112_1653-101del
ENST00000341012.11:c.1842-112_1842-101del ENSP00000343034.7:n.1842-112_1842-101del
ENST00000372220.4:c.867-112_867-101del ENSP00000361294.4:n.867-112_867-101del
ENST00000372228.7:c.2070-112_2070-101del ENSP00000361302.3:n.2070-112_2070-101del
ENST00000402686.7:c.2004-112_2004-101del ENSP00000385797.3:n.2004-112_2004-101del
ENST00000404875.6:c.1653-112_1653-101del ENSP00000384531.2:n.1653-112_1653-101del
ENST00000423007.5:c.2004-112_2004-101del ENSP00000404119.1:n.2004-112_2004-101del
ENST00000485278.5:n.2554-112_2554-101del
NM_001077365.1:c.2004-112_2004-101del NP_001070833.1:n.2004-112_2004-101del
NM_001077366.1:c.1842-112_1842-101del NP_001070834.1:n.1842-112_1842-101del
NM_001136113.1:c.2004-112_2004-101del NP_001129585.1:n.2004-112_2004-101del
NM_001136114.1:c.1653-112_1653-101del NP_001129586.1:n.1653-112_1653-101del
NM_007171.3:c.2070-112_2070-101del NP_009102.3:n.2070-112_2070-101del
XM_005272156.1:c.2070-112_2070-101del XP_005272213.1:n.2070-112_2070-101del
XM_005272158.1:c.1908-112_1908-101del XP_005272215.1:n.1908-112_1908-101del
XM_005272159.1:c.1719-112_1719-101del XP_005272216.1:n.1719-112_1719-101del
XM_005272162.1:c.873-112_873-101del XP_005272219.1:n.873-112_873-101del
XM_006716932.1:c.1719-112_1719-101del XP_006716995.1:n.1719-112_1719-101del
XM_011518140.1:c.1923-112_1923-101del XP_011516442.1:n.1923-112_1923-101del
XM_011518141.1:c.1857-112_1857-101del XP_011516443.1:n.1857-112_1857-101del
XM_011518142.1:c.1761-112_1761-101del XP_011516444.1:n.1761-112_1761-101del
XM_011518143.1:c.1755-112_1755-101del XP_011516445.1:n.1755-112_1755-101del
XM_011518145.1:c.1614-112_1614-101del XP_011516447.1:n.1614-112_1614-101del
XM_011518147.1:c.942-112_942-101del XP_011516449.1:n.942-112_942-101del
XR_929703.1:n.2246-112_2246-101del
NM_001353193.1:c.2070-112_2070-101del NP_001340122.1:n.2070-112_2070-101del
NM_001353194.1:c.1842-112_1842-101del NP_001340123.1:n.1842-112_1842-101del
NM_001353195.1:c.1653-112_1653-101del NP_001340124.1:n.1653-112_1653-101del
NM_001353196.1:c.1914-112_1914-101del NP_001340125.1:n.1914-112_1914-101del
NM_001353197.1:c.1908-112_1908-101del NP_001340126.1:n.1908-112_1908-101del
NM_001353198.1:c.1908-112_1908-101del NP_001340127.1:n.1908-112_1908-101del
NM_001353199.1:c.1719-112_1719-101del NP_001340128.1:n.1719-112_1719-101del
NM_001353200.1:c.1548-112_1548-101del NP_001340129.1:n.1548-112_1548-101del
NR_148391.1:n.2054-112_2054-101del
NR_148392.1:n.2272-112_2272-101del
NR_148393.1:n.2193-112_2193-101del
NR_148394.1:n.1947-112_1947-101del
NR_148395.1:n.2345-112_2345-101del
NR_148396.1:n.1979-112_1979-101del
NR_148397.1:n.2104-112_2104-101del
NR_148398.1:n.2059-112_2059-101del
NR_148399.1:n.2585-112_2585-101del
NR_148400.1:n.2184-112_2184-101del
XM_005272162.3:c.873-112_873-101del XP_005272219.1:n.873-112_873-101del
XM_006716932.2:c.1719-112_1719-101del XP_006716995.1:n.1719-112_1719-101del
XM_011518140.2:c.1923-112_1923-101del XP_011516442.1:n.1923-112_1923-101del
XM_011518141.2:c.1857-112_1857-101del XP_011516443.1:n.1857-112_1857-101del
XM_011518142.2:c.1761-112_1761-101del XP_011516444.1:n.1761-112_1761-101del
XM_011518143.2:c.1755-112_1755-101del XP_011516445.1:n.1755-112_1755-101del
XM_011518145.2:c.1614-112_1614-101del XP_011516447.1:n.1614-112_1614-101del
XM_017014205.2:c.873-112_873-101del XP_016869694.1:n.873-112_873-101del
XM_024447380.1:c.873-112_873-101del XP_024303148.1:n.873-112_873-101del
XM_024447381.1:c.1179-112_1179-101del XP_024303149.1:n.1179-112_1179-101del
XM_024447382.1:c.873-112_873-101del XP_024303150.1:n.873-112_873-101del
XR_001746160.2:n.2174-112_2174-101del
XR_001746162.2:n.2379-112_2379-101del
XR_001746164.1:n.2096-112_2096-101del
XR_001746166.2:n.2391-112_2391-101del
NM_001077365.2:c.2004-112_2004-101del MANE Select NP_001070833.1:n.2004-112_2004-101del
NM_001077366.2:c.1842-112_1842-101del NP_001070834.1:n.1842-112_1842-101del
NM_001136113.2:c.2004-112_2004-101del NP_001129585.1:n.2004-112_2004-101del
NM_001136114.2:c.1653-112_1653-101del NP_001129586.1:n.1653-112_1653-101del
NM_001353193.2:c.2070-112_2070-101del NP_001340122.2:n.2070-112_2070-101del
NM_001353194.2:c.1842-112_1842-101del NP_001340123.1:n.1842-112_1842-101del
NM_001353195.2:c.1653-112_1653-101del NP_001340124.1:n.1653-112_1653-101del
NM_001353196.2:c.1914-112_1914-101del NP_001340125.1:n.1914-112_1914-101del
NM_001353197.2:c.1908-112_1908-101del NP_001340126.2:n.1908-112_1908-101del
NM_001353198.2:c.1908-112_1908-101del NP_001340127.2:n.1908-112_1908-101del
NM_001353199.2:c.1719-112_1719-101del NP_001340128.2:n.1719-112_1719-101del
NM_001353200.2:c.1548-112_1548-101del NP_001340129.1:n.1548-112_1548-101del
NM_001374689.1:c.1992-112_1992-101del NP_001361618.1:n.1992-112_1992-101del
NM_001374690.1:c.1785-112_1785-101del NP_001361619.1:n.1785-112_1785-101del
NM_001374691.1:c.1653-112_1653-101del NP_001361620.1:n.1653-112_1653-101del
NM_001374692.1:c.1653-112_1653-101del NP_001361621.1:n.1653-112_1653-101del
NM_001374693.1:c.1653-112_1653-101del NP_001361622.1:n.1653-112_1653-101del
NM_001374695.1:c.1614-112_1614-101del NP_001361624.1:n.1614-112_1614-101del
NM_007171.4:c.2070-112_2070-101del NP_009102.4:n.2070-112_2070-101del
NR_148391.2:n.2038-112_2038-101del
NR_148392.2:n.2256-112_2256-101del
NR_148393.2:n.2177-112_2177-101del
NR_148394.2:n.1931-112_1931-101del
NR_148395.2:n.2329-112_2329-101del
NR_148396.2:n.1963-112_1963-101del
NR_148397.2:n.2088-112_2088-101del
NR_148398.2:n.2043-112_2043-101del
NR_148399.2:n.2569-112_2569-101del
NR_148400.2:n.2168-112_2168-101del
Search 100 bp 5'
Search 100 bp 3'