Canonical Allele Identifier: CA2692221058
Gene: POMT1 HGNC NCBI

Linked Data

gnomAD v4: 9-131522872-GCC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131522873_131522874del , CM000671.2:g.131522873_131522874del GRCh38
NC_000009.11:g.134398260_134398261del , CM000671.1:g.134398260_134398261del GRCh37
NC_000009.10:g.133388081_133388082del NCBI36
NG_008896.1:g.24972_24973del
NG_008896.2:g.24972_24973del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1842-59_1842-58del ENSP00000343034.7:n.1842-59_1842-58del
ENST00000404875.7:n.2544-59_2544-58del
ENST00000423007.6:c.2061-59_2061-58del ENSP00000404119.2:n.2061-59_2061-58del
ENST00000677295.2:c.*2348-59_*2348-58del ENSP00000504346.2:n.*2348-59_*2348-58del
ENST00000678264.2:c.*2187-59_*2187-58del ENSP00000503157.2:n.*2187-59_*2187-58del
ENST00000682070.1:n.2314-59_2314-58del
ENST00000682813.1:n.2408-66_2408-65del
ENST00000683392.1:n.4596-59_4596-58del
ENST00000683712.1:n.2409-59_2409-58del
ENST00000683900.1:n.3904-59_3904-58del
ENST00000684062.1:n.2670-59_2670-58del
ENST00000684579.1:n.3850-59_3850-58del
ENST00000341012.12:c.1842-59_1842-58del ENSP00000343034.7:n.1842-59_1842-58del
ENST00000372220.5:c.873-59_873-58del ENSP00000361294.5:n.873-59_873-58del
ENST00000372228.9:c.2070-59_2070-58del ENSP00000361302.3:n.2070-59_2070-58del
ENST00000402686.8:c.2004-59_2004-58del MANE Select ENSP00000385797.4:n.2004-59_2004-58del
ENST00000676640.1:c.2004-59_2004-58del ENSP00000503281.1:n.2004-59_2004-58del
ENST00000676803.1:c.1065-59_1065-58del ENSP00000503093.1:n.1065-59_1065-58del
ENST00000676835.1:c.*1219-59_*1219-58del ENSP00000502911.1:n.*1219-59_*1219-58del
ENST00000677029.1:c.1548-59_1548-58del ENSP00000502936.1:n.1548-59_1548-58del
ENST00000677099.1:c.*1714-59_*1714-58del ENSP00000504553.1:n.*1714-59_*1714-58del
ENST00000677216.1:c.1653-59_1653-58del ENSP00000503772.1:n.1653-59_1653-58del
ENST00000677221.1:n.1029-59_1029-58del
ENST00000677295.1:c.*1226-59_*1226-58del ENSP00000504346.1:n.*1226-59_*1226-58del
ENST00000677444.1:c.1949-59_1949-58del
ENST00000677586.1:n.1371-59_1371-58del
ENST00000677626.1:c.1653-59_1653-58del ENSP00000503552.1:n.1653-59_1653-58del
ENST00000677853.1:c.*1012-59_*1012-58del ENSP00000503488.1:n.*1012-59_*1012-58del
ENST00000678264.1:c.*1381-59_*1381-58del ENSP00000503157.1:n.*1381-59_*1381-58del
ENST00000678303.1:c.1914-59_1914-58del ENSP00000503696.1:n.1914-59_1914-58del
ENST00000678366.1:c.*2253-59_*2253-58del ENSP00000504353.1:n.*2253-59_*2253-58del
ENST00000678546.1:c.*1949-59_*1949-58del ENSP00000503062.1:n.*1949-59_*1949-58del
ENST00000678548.1:c.*2143-59_*2143-58del ENSP00000503934.1:n.*2143-59_*2143-58del
ENST00000678626.1:n.1840-59_1840-58del
ENST00000678739.1:c.*2170-59_*2170-58del ENSP00000503806.1:n.*2170-59_*2170-58del
ENST00000678833.1:c.*1756-59_*1756-58del ENSP00000503893.1:n.*1756-59_*1756-58del
ENST00000679023.1:c.1842-59_1842-58del ENSP00000503718.1:n.1842-59_1842-58del
ENST00000679076.1:c.1623-59_1623-58del
ENST00000679111.1:c.*760-59_*760-58del ENSP00000504257.1:n.*760-59_*760-58del
ENST00000679189.1:c.1653-59_1653-58del ENSP00000503356.1:n.1653-59_1653-58del
ENST00000341012.11:c.1842-59_1842-58del ENSP00000343034.7:n.1842-59_1842-58del
ENST00000372220.4:c.867-59_867-58del ENSP00000361294.4:n.867-59_867-58del
ENST00000372228.7:c.2070-59_2070-58del ENSP00000361302.3:n.2070-59_2070-58del
ENST00000402686.7:c.2004-59_2004-58del ENSP00000385797.3:n.2004-59_2004-58del
ENST00000404875.6:c.1653-59_1653-58del ENSP00000384531.2:n.1653-59_1653-58del
ENST00000423007.5:c.2004-59_2004-58del ENSP00000404119.1:n.2004-59_2004-58del
ENST00000485278.5:n.2554-59_2554-58del
NM_001077365.1:c.2004-59_2004-58del NP_001070833.1:n.2004-59_2004-58del
NM_001077366.1:c.1842-59_1842-58del NP_001070834.1:n.1842-59_1842-58del
NM_001136113.1:c.2004-59_2004-58del NP_001129585.1:n.2004-59_2004-58del
NM_001136114.1:c.1653-59_1653-58del NP_001129586.1:n.1653-59_1653-58del
NM_007171.3:c.2070-59_2070-58del NP_009102.3:n.2070-59_2070-58del
XM_005272156.1:c.2070-59_2070-58del XP_005272213.1:n.2070-59_2070-58del
XM_005272158.1:c.1908-59_1908-58del XP_005272215.1:n.1908-59_1908-58del
XM_005272159.1:c.1719-59_1719-58del XP_005272216.1:n.1719-59_1719-58del
XM_005272162.1:c.873-59_873-58del XP_005272219.1:n.873-59_873-58del
XM_006716932.1:c.1719-59_1719-58del XP_006716995.1:n.1719-59_1719-58del
XM_011518140.1:c.1923-59_1923-58del XP_011516442.1:n.1923-59_1923-58del
XM_011518141.1:c.1857-59_1857-58del XP_011516443.1:n.1857-59_1857-58del
XM_011518142.1:c.1761-59_1761-58del XP_011516444.1:n.1761-59_1761-58del
XM_011518143.1:c.1755-59_1755-58del XP_011516445.1:n.1755-59_1755-58del
XM_011518145.1:c.1614-59_1614-58del XP_011516447.1:n.1614-59_1614-58del
XM_011518147.1:c.942-59_942-58del XP_011516449.1:n.942-59_942-58del
XR_929703.1:n.2246-59_2246-58del
NM_001353193.1:c.2070-59_2070-58del NP_001340122.1:n.2070-59_2070-58del
NM_001353194.1:c.1842-59_1842-58del NP_001340123.1:n.1842-59_1842-58del
NM_001353195.1:c.1653-59_1653-58del NP_001340124.1:n.1653-59_1653-58del
NM_001353196.1:c.1914-59_1914-58del NP_001340125.1:n.1914-59_1914-58del
NM_001353197.1:c.1908-59_1908-58del NP_001340126.1:n.1908-59_1908-58del
NM_001353198.1:c.1908-59_1908-58del NP_001340127.1:n.1908-59_1908-58del
NM_001353199.1:c.1719-59_1719-58del NP_001340128.1:n.1719-59_1719-58del
NM_001353200.1:c.1548-59_1548-58del NP_001340129.1:n.1548-59_1548-58del
NR_148391.1:n.2054-59_2054-58del
NR_148392.1:n.2272-59_2272-58del
NR_148393.1:n.2193-59_2193-58del
NR_148394.1:n.1947-59_1947-58del
NR_148395.1:n.2345-59_2345-58del
NR_148396.1:n.1979-59_1979-58del
NR_148397.1:n.2104-59_2104-58del
NR_148398.1:n.2059-59_2059-58del
NR_148399.1:n.2585-59_2585-58del
NR_148400.1:n.2184-59_2184-58del
XM_005272162.3:c.873-59_873-58del XP_005272219.1:n.873-59_873-58del
XM_006716932.2:c.1719-59_1719-58del XP_006716995.1:n.1719-59_1719-58del
XM_011518140.2:c.1923-59_1923-58del XP_011516442.1:n.1923-59_1923-58del
XM_011518141.2:c.1857-59_1857-58del XP_011516443.1:n.1857-59_1857-58del
XM_011518142.2:c.1761-59_1761-58del XP_011516444.1:n.1761-59_1761-58del
XM_011518143.2:c.1755-59_1755-58del XP_011516445.1:n.1755-59_1755-58del
XM_011518145.2:c.1614-59_1614-58del XP_011516447.1:n.1614-59_1614-58del
XM_017014205.2:c.873-59_873-58del XP_016869694.1:n.873-59_873-58del
XM_024447380.1:c.873-59_873-58del XP_024303148.1:n.873-59_873-58del
XM_024447381.1:c.1179-59_1179-58del XP_024303149.1:n.1179-59_1179-58del
XM_024447382.1:c.873-59_873-58del XP_024303150.1:n.873-59_873-58del
XR_001746160.2:n.2174-59_2174-58del
XR_001746162.2:n.2379-59_2379-58del
XR_001746164.1:n.2096-59_2096-58del
XR_001746166.2:n.2391-59_2391-58del
NM_001077365.2:c.2004-59_2004-58del MANE Select NP_001070833.1:n.2004-59_2004-58del
NM_001077366.2:c.1842-59_1842-58del NP_001070834.1:n.1842-59_1842-58del
NM_001136113.2:c.2004-59_2004-58del NP_001129585.1:n.2004-59_2004-58del
NM_001136114.2:c.1653-59_1653-58del NP_001129586.1:n.1653-59_1653-58del
NM_001353193.2:c.2070-59_2070-58del NP_001340122.2:n.2070-59_2070-58del
NM_001353194.2:c.1842-59_1842-58del NP_001340123.1:n.1842-59_1842-58del
NM_001353195.2:c.1653-59_1653-58del NP_001340124.1:n.1653-59_1653-58del
NM_001353196.2:c.1914-59_1914-58del NP_001340125.1:n.1914-59_1914-58del
NM_001353197.2:c.1908-59_1908-58del NP_001340126.2:n.1908-59_1908-58del
NM_001353198.2:c.1908-59_1908-58del NP_001340127.2:n.1908-59_1908-58del
NM_001353199.2:c.1719-59_1719-58del NP_001340128.2:n.1719-59_1719-58del
NM_001353200.2:c.1548-59_1548-58del NP_001340129.1:n.1548-59_1548-58del
NM_001374689.1:c.1992-59_1992-58del NP_001361618.1:n.1992-59_1992-58del
NM_001374690.1:c.1785-59_1785-58del NP_001361619.1:n.1785-59_1785-58del
NM_001374691.1:c.1653-59_1653-58del NP_001361620.1:n.1653-59_1653-58del
NM_001374692.1:c.1653-59_1653-58del NP_001361621.1:n.1653-59_1653-58del
NM_001374693.1:c.1653-59_1653-58del NP_001361622.1:n.1653-59_1653-58del
NM_001374695.1:c.1614-59_1614-58del NP_001361624.1:n.1614-59_1614-58del
NM_007171.4:c.2070-59_2070-58del NP_009102.4:n.2070-59_2070-58del
NR_148391.2:n.2038-59_2038-58del
NR_148392.2:n.2256-59_2256-58del
NR_148393.2:n.2177-59_2177-58del
NR_148394.2:n.1931-59_1931-58del
NR_148395.2:n.2329-59_2329-58del
NR_148396.2:n.1963-59_1963-58del
NR_148397.2:n.2088-59_2088-58del
NR_148398.2:n.2043-59_2043-58del
NR_148399.2:n.2569-59_2569-58del
NR_148400.2:n.2168-59_2168-58del
Search 100 bp 5'
Search 100 bp 3'