Canonical Allele Identifier: CA2692219510

Gene: POMT1

Linked Data

• gnomAD v4: 9-131522093-CTGGGCAGTGAACTACCTCCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522095_131522115del , CM000671.2:g.131522095_131522115del	GRCh38
NC_000009.11:g.134397482_134397502del , CM000671.1:g.134397482_134397502del	GRCh37
NC_000009.10:g.133387303_133387323del	NCBI36
NG_008896.1:g.24194_24214del
NG_008896.2:g.24194_24214del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1712_1732del	ENSP00000343034.7:p.Trp571_Pro577del
ENST00000404875.7:n.2414_2434del
ENST00000423007.6:c.1931_1951del	ENSP00000404119.2:p.Trp644_Pro650del
ENST00000677295.2:c.*2218_*2238del	ENSP00000504346.2:n.*2218_*2238del
ENST00000678264.2:c.*2057_*2077del	ENSP00000503157.2:n.*2057_*2077del
ENST00000682070.1:n.2291-107_2291-87del
ENST00000682813.1:n.2278_2298del
ENST00000683392.1:n.4573-107_4573-87del
ENST00000683712.1:n.2279_2299del
ENST00000683900.1:n.3774_3794del
ENST00000684062.1:n.2540_2560del
ENST00000684579.1:n.3720_3740del
ENST00000684679.1:n.1101_1121del
ENST00000341012.12:c.1712_1732del	ENSP00000343034.7:p.Trp571_Pro577del
ENST00000372220.5:c.743_763del	ENSP00000361294.5:p.Trp248_Pro254del
ENST00000372228.9:c.1940_1960del	ENSP00000361302.3:p.Trp647_Pro653del
ENST00000402686.8:c.1874_1894del MANE Select	ENSP00000385797.4:p.Trp625_Pro631del
ENST00000676640.1:c.1874_1894del	ENSP00000503281.1:p.Trp625_Pro631del
ENST00000676803.1:c.935_955del	ENSP00000503093.1:p.Trp312_Pro318del
ENST00000676835.1:c.*1089_*1109del	ENSP00000502911.1:n.*1089_*1109del
ENST00000677029.1:c.1418_1438del	ENSP00000502936.1:p.Trp473_Pro479del
ENST00000677099.1:c.*1584_*1604del	ENSP00000504553.1:n.*1584_*1604del
ENST00000677216.1:c.1523_1543del	ENSP00000503772.1:p.Trp508_Pro514del
ENST00000677221.1:n.899_919del
ENST00000677295.1:c.*1203-107_*1203-87del	ENSP00000504346.1:n.*1203-107_*1203-87del
ENST00000677444.1:c.1819_1839del
ENST00000677586.1:n.1241_1261del
ENST00000677626.1:c.1523_1543del	ENSP00000503552.1:p.Trp508_Pro514del
ENST00000677853.1:c.*882_*902del	ENSP00000503488.1:n.*882_*902del
ENST00000678202.1:n.1033_1053del
ENST00000678264.1:c.*1251_*1271del	ENSP00000503157.1:n.*1251_*1271del
ENST00000678303.1:c.1784_1804del	ENSP00000503696.1:p.Trp595_Pro601del
ENST00000678366.1:c.*2123_*2143del	ENSP00000504353.1:n.*2123_*2143del
ENST00000678546.1:c.*1819_*1839del	ENSP00000503062.1:n.*1819_*1839del
ENST00000678548.1:c.*2013_*2033del	ENSP00000503934.1:n.*2013_*2033del
ENST00000678626.1:n.1710_1730del
ENST00000678739.1:c.*2147-107_*2147-87del	ENSP00000503806.1:n.*2147-107_*2147-87del
ENST00000678833.1:c.*1626_*1646del	ENSP00000503893.1:n.*1626_*1646del
ENST00000679023.1:c.1712_1732del	ENSP00000503718.1:p.Trp571_Pro577del
ENST00000679076.1:c.1493_1513del
ENST00000679111.1:c.*630_*650del	ENSP00000504257.1:n.*630_*650del
ENST00000679189.1:c.1523_1543del	ENSP00000503356.1:p.Trp508_Pro514del
ENST00000341012.11:c.1712_1732del	ENSP00000343034.7:p.Trp571_Pro577del
ENST00000372220.4:c.737_757del	ENSP00000361294.4:p.Trp246_Pro252del
ENST00000372228.7:c.1940_1960del	ENSP00000361302.3:p.Trp647_Pro653del
ENST00000402686.7:c.1874_1894del	ENSP00000385797.3:p.Trp625_Pro631del
ENST00000404875.6:c.1523_1543del	ENSP00000384531.2:p.Trp508_Pro514del
ENST00000423007.5:c.1874_1894del	ENSP00000404119.1:p.Trp625_Pro631del
ENST00000485278.5:n.2424_2444del
ENST00000494883.1:n.417_437del
NM_001077365.1:c.1874_1894del	NP_001070833.1:p.Trp625_Pro631del
NM_001077366.1:c.1712_1732del	NP_001070834.1:p.Trp571_Pro577del
NM_001136113.1:c.1874_1894del	NP_001129585.1:p.Trp625_Pro631del
NM_001136114.1:c.1523_1543del	NP_001129586.1:p.Trp508_Pro514del
NM_007171.3:c.1940_1960del	NP_009102.3:p.Trp647_Pro653del
XM_005272156.1:c.1940_1960del	XP_005272213.1:p.Trp647_Pro653del
XM_005272158.1:c.1778_1798del	XP_005272215.1:p.Trp593_Pro599del
XM_005272159.1:c.1589_1609del	XP_005272216.1:p.Trp530_Pro536del
XM_005272162.1:c.743_763del	XP_005272219.1:p.Trp248_Pro254del
XM_006716932.1:c.1589_1609del	XP_006716995.1:p.Trp530_Pro536del
XM_011518140.1:c.1793_1813del	XP_011516442.1:p.Trp598_Pro604del
XM_011518141.1:c.1727_1747del	XP_011516443.1:p.Trp576_Pro582del
XM_011518142.1:c.1631_1651del	XP_011516444.1:p.Trp544_Pro550del
XM_011518143.1:c.1625_1645del	XP_011516445.1:p.Trp542_Pro548del
XM_011518145.1:c.1484_1504del	XP_011516447.1:p.Trp495_Pro501del
XM_011518147.1:c.812_832del	XP_011516449.1:p.Trp271_Pro277del
XR_929703.1:n.2116_2136del
NM_001353193.1:c.1940_1960del	NP_001340122.1:p.Trp647_Pro653del
NM_001353194.1:c.1712_1732del	NP_001340123.1:p.Trp571_Pro577del
NM_001353195.1:c.1523_1543del	NP_001340124.1:p.Trp508_Pro514del
NM_001353196.1:c.1784_1804del	NP_001340125.1:p.Trp595_Pro601del
NM_001353197.1:c.1778_1798del	NP_001340126.1:p.Trp593_Pro599del
NM_001353198.1:c.1778_1798del	NP_001340127.1:p.Trp593_Pro599del
NM_001353199.1:c.1589_1609del	NP_001340128.1:p.Trp530_Pro536del
NM_001353200.1:c.1418_1438del	NP_001340129.1:p.Trp473_Pro479del
NR_148391.1:n.1924_1944del
NR_148392.1:n.2142_2162del
NR_148393.1:n.2063_2083del
NR_148394.1:n.1817_1837del
NR_148395.1:n.2215_2235del
NR_148396.1:n.1849_1869del
NR_148397.1:n.1974_1994del
NR_148398.1:n.1929_1949del
NR_148399.1:n.2455_2475del
NR_148400.1:n.2054_2074del
XM_005272162.3:c.743_763del	XP_005272219.1:p.Trp248_Pro254del
XM_006716932.2:c.1589_1609del	XP_006716995.1:p.Trp530_Pro536del
XM_011518140.2:c.1793_1813del	XP_011516442.1:p.Trp598_Pro604del
XM_011518141.2:c.1727_1747del	XP_011516443.1:p.Trp576_Pro582del
XM_011518142.2:c.1631_1651del	XP_011516444.1:p.Trp544_Pro550del
XM_011518143.2:c.1625_1645del	XP_011516445.1:p.Trp542_Pro548del
XM_011518145.2:c.1484_1504del	XP_011516447.1:p.Trp495_Pro501del
XM_017014205.2:c.743_763del	XP_016869694.1:p.Trp248_Pro254del
XM_024447380.1:c.743_763del	XP_024303148.1:p.Trp248_Pro254del
XM_024447381.1:c.1049_1069del	XP_024303149.1:p.Trp350_Pro356del
XM_024447382.1:c.743_763del	XP_024303150.1:p.Trp248_Pro254del
XR_001746160.2:n.2044_2064del
XR_001746162.2:n.2249_2269del
XR_001746164.1:n.1966_1986del
XR_001746166.2:n.2261_2281del
NM_001077365.2:c.1874_1894del MANE Select	NP_001070833.1:p.Trp625_Pro631del
NM_001077366.2:c.1712_1732del	NP_001070834.1:p.Trp571_Pro577del
NM_001136113.2:c.1874_1894del	NP_001129585.1:p.Trp625_Pro631del
NM_001136114.2:c.1523_1543del	NP_001129586.1:p.Trp508_Pro514del
NM_001353193.2:c.1940_1960del	NP_001340122.2:p.Trp647_Pro653del
NM_001353194.2:c.1712_1732del	NP_001340123.1:p.Trp571_Pro577del
NM_001353195.2:c.1523_1543del	NP_001340124.1:p.Trp508_Pro514del
NM_001353196.2:c.1784_1804del	NP_001340125.1:p.Trp595_Pro601del
NM_001353197.2:c.1778_1798del	NP_001340126.2:p.Trp593_Pro599del
NM_001353198.2:c.1778_1798del	NP_001340127.2:p.Trp593_Pro599del
NM_001353199.2:c.1589_1609del	NP_001340128.2:p.Trp530_Pro536del
NM_001353200.2:c.1418_1438del	NP_001340129.1:p.Trp473_Pro479del
NM_001374689.1:c.1862_1882del	NP_001361618.1:p.Trp621_Pro627del
NM_001374690.1:c.1655_1675del	NP_001361619.1:p.Trp552_Pro558del
NM_001374691.1:c.1523_1543del	NP_001361620.1:p.Trp508_Pro514del
NM_001374692.1:c.1523_1543del	NP_001361621.1:p.Trp508_Pro514del
NM_001374693.1:c.1523_1543del	NP_001361622.1:p.Trp508_Pro514del
NM_001374695.1:c.1484_1504del	NP_001361624.1:p.Trp495_Pro501del
NM_007171.4:c.1940_1960del	NP_009102.4:p.Trp647_Pro653del
NR_148391.2:n.1908_1928del
NR_148392.2:n.2126_2146del
NR_148393.2:n.2047_2067del
NR_148394.2:n.1801_1821del
NR_148395.2:n.2199_2219del
NR_148396.2:n.1833_1853del
NR_148397.2:n.1958_1978del
NR_148398.2:n.1913_1933del
NR_148399.2:n.2439_2459del
NR_148400.2:n.2038_2058del