Canonical Allele Identifier: CA590946832

Gene: POMT1

Linked Data

• dbSNP Id: rs1176455327
• gnomAD v2: 9-134397564-CCTT-C
• gnomAD v4: 9-131522177-CCTT-C
• MyVariant Identifiers: chr9:g.134397565_134397567del (hg19) ; chr9:g.131522178_131522180del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522180_131522182del , CM000671.2:g.131522180_131522182del	GRCh38
NC_000009.11:g.134397567_134397569del , CM000671.1:g.134397567_134397569del	GRCh37
NC_000009.10:g.133387388_133387390del	NCBI36
NG_008896.1:g.24279_24281del
NG_008896.2:g.24279_24281del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1797_1799del	ENSP00000343034.7:p.Leu600del
ENST00000404875.7:n.2499_2501del
ENST00000423007.6:c.2016_2018del	ENSP00000404119.2:p.Leu673del
ENST00000677295.2:c.*2303_*2305del	ENSP00000504346.2:n.*2303_*2305del
ENST00000678264.2:c.*2142_*2144del	ENSP00000503157.2:n.*2142_*2144del
ENST00000682070.1:n.2291-22_2291-20del
ENST00000682813.1:n.2363_2365del
ENST00000683392.1:n.4573-22_4573-20del
ENST00000683712.1:n.2364_2366del
ENST00000683900.1:n.3859_3861del
ENST00000684062.1:n.2625_2627del
ENST00000684579.1:n.3805_3807del
ENST00000684679.1:n.1186_1188del
ENST00000341012.12:c.1797_1799del	ENSP00000343034.7:p.Leu600del
ENST00000372220.5:c.828_830del	ENSP00000361294.5:p.Leu277del
ENST00000372228.9:c.2025_2027del	ENSP00000361302.3:p.Leu676del
ENST00000402686.8:c.1959_1961del MANE Select	ENSP00000385797.4:p.Leu654del
ENST00000676640.1:c.1959_1961del	ENSP00000503281.1:p.Leu654del
ENST00000676803.1:c.1020_1022del	ENSP00000503093.1:p.Leu341del
ENST00000676835.1:c.*1174_*1176del	ENSP00000502911.1:n.*1174_*1176del
ENST00000677029.1:c.1503_1505del	ENSP00000502936.1:p.Leu502del
ENST00000677099.1:c.*1669_*1671del	ENSP00000504553.1:n.*1669_*1671del
ENST00000677216.1:c.1608_1610del	ENSP00000503772.1:p.Leu537del
ENST00000677221.1:n.984_986del
ENST00000677295.1:c.*1203-22_*1203-20del	ENSP00000504346.1:n.*1203-22_*1203-20del
ENST00000677444.1:c.1904_1906del
ENST00000677586.1:n.1326_1328del
ENST00000677626.1:c.1608_1610del	ENSP00000503552.1:p.Leu537del
ENST00000677853.1:c.*967_*969del	ENSP00000503488.1:n.*967_*969del
ENST00000678202.1:n.1118_1120del
ENST00000678264.1:c.*1336_*1338del	ENSP00000503157.1:n.*1336_*1338del
ENST00000678303.1:c.1869_1871del	ENSP00000503696.1:p.Leu624del
ENST00000678366.1:c.*2208_*2210del	ENSP00000504353.1:n.*2208_*2210del
ENST00000678546.1:c.*1904_*1906del	ENSP00000503062.1:n.*1904_*1906del
ENST00000678548.1:c.*2098_*2100del	ENSP00000503934.1:n.*2098_*2100del
ENST00000678626.1:n.1795_1797del
ENST00000678739.1:c.*2147-22_*2147-20del	ENSP00000503806.1:n.*2147-22_*2147-20del
ENST00000678833.1:c.*1711_*1713del	ENSP00000503893.1:n.*1711_*1713del
ENST00000679023.1:c.1797_1799del	ENSP00000503718.1:p.Leu600del
ENST00000679076.1:c.1578_1580del
ENST00000679111.1:c.*715_*717del	ENSP00000504257.1:n.*715_*717del
ENST00000679189.1:c.1608_1610del	ENSP00000503356.1:p.Leu537del
ENST00000341012.11:c.1797_1799del	ENSP00000343034.7:p.Leu600del
ENST00000372220.4:c.822_824del	ENSP00000361294.4:p.Leu275del
ENST00000372228.7:c.2025_2027del	ENSP00000361302.3:p.Leu676del
ENST00000402686.7:c.1959_1961del	ENSP00000385797.3:p.Leu654del
ENST00000404875.6:c.1608_1610del	ENSP00000384531.2:p.Leu537del
ENST00000423007.5:c.1959_1961del	ENSP00000404119.1:p.Leu654del
ENST00000485278.5:n.2509_2511del
ENST00000494883.1:n.502_504del
NM_001077365.1:c.1959_1961del	NP_001070833.1:p.Leu654del
NM_001077366.1:c.1797_1799del	NP_001070834.1:p.Leu600del
NM_001136113.1:c.1959_1961del	NP_001129585.1:p.Leu654del
NM_001136114.1:c.1608_1610del	NP_001129586.1:p.Leu537del
NM_007171.3:c.2025_2027del	NP_009102.3:p.Leu676del
XM_005272156.1:c.2025_2027del	XP_005272213.1:p.Leu676del
XM_005272158.1:c.1863_1865del	XP_005272215.1:p.Leu622del
XM_005272159.1:c.1674_1676del	XP_005272216.1:p.Leu559del
XM_005272162.1:c.828_830del	XP_005272219.1:p.Leu277del
XM_006716932.1:c.1674_1676del	XP_006716995.1:p.Leu559del
XM_011518140.1:c.1878_1880del	XP_011516442.1:p.Leu627del
XM_011518141.1:c.1812_1814del	XP_011516443.1:p.Leu605del
XM_011518142.1:c.1716_1718del	XP_011516444.1:p.Leu573del
XM_011518143.1:c.1710_1712del	XP_011516445.1:p.Leu571del
XM_011518145.1:c.1569_1571del	XP_011516447.1:p.Leu524del
XM_011518147.1:c.897_899del	XP_011516449.1:p.Leu300del
XR_929703.1:n.2201_2203del
NM_001353193.1:c.2025_2027del	NP_001340122.1:p.Leu676del
NM_001353194.1:c.1797_1799del	NP_001340123.1:p.Leu600del
NM_001353195.1:c.1608_1610del	NP_001340124.1:p.Leu537del
NM_001353196.1:c.1869_1871del	NP_001340125.1:p.Leu624del
NM_001353197.1:c.1863_1865del	NP_001340126.1:p.Leu622del
NM_001353198.1:c.1863_1865del	NP_001340127.1:p.Leu622del
NM_001353199.1:c.1674_1676del	NP_001340128.1:p.Leu559del
NM_001353200.1:c.1503_1505del	NP_001340129.1:p.Leu502del
NR_148391.1:n.2009_2011del
NR_148392.1:n.2227_2229del
NR_148393.1:n.2148_2150del
NR_148394.1:n.1902_1904del
NR_148395.1:n.2300_2302del
NR_148396.1:n.1934_1936del
NR_148397.1:n.2059_2061del
NR_148398.1:n.2014_2016del
NR_148399.1:n.2540_2542del
NR_148400.1:n.2139_2141del
XM_005272162.3:c.828_830del	XP_005272219.1:p.Leu277del
XM_006716932.2:c.1674_1676del	XP_006716995.1:p.Leu559del
XM_011518140.2:c.1878_1880del	XP_011516442.1:p.Leu627del
XM_011518141.2:c.1812_1814del	XP_011516443.1:p.Leu605del
XM_011518142.2:c.1716_1718del	XP_011516444.1:p.Leu573del
XM_011518143.2:c.1710_1712del	XP_011516445.1:p.Leu571del
XM_011518145.2:c.1569_1571del	XP_011516447.1:p.Leu524del
XM_017014205.2:c.828_830del	XP_016869694.1:p.Leu277del
XM_024447380.1:c.828_830del	XP_024303148.1:p.Leu277del
XM_024447381.1:c.1134_1136del	XP_024303149.1:p.Leu379del
XM_024447382.1:c.828_830del	XP_024303150.1:p.Leu277del
XR_001746160.2:n.2129_2131del
XR_001746162.2:n.2334_2336del
XR_001746164.1:n.2051_2053del
XR_001746166.2:n.2346_2348del
NM_001077365.2:c.1959_1961del MANE Select	NP_001070833.1:p.Leu654del
NM_001077366.2:c.1797_1799del	NP_001070834.1:p.Leu600del
NM_001136113.2:c.1959_1961del	NP_001129585.1:p.Leu654del
NM_001136114.2:c.1608_1610del	NP_001129586.1:p.Leu537del
NM_001353193.2:c.2025_2027del	NP_001340122.2:p.Leu676del
NM_001353194.2:c.1797_1799del	NP_001340123.1:p.Leu600del
NM_001353195.2:c.1608_1610del	NP_001340124.1:p.Leu537del
NM_001353196.2:c.1869_1871del	NP_001340125.1:p.Leu624del
NM_001353197.2:c.1863_1865del	NP_001340126.2:p.Leu622del
NM_001353198.2:c.1863_1865del	NP_001340127.2:p.Leu622del
NM_001353199.2:c.1674_1676del	NP_001340128.2:p.Leu559del
NM_001353200.2:c.1503_1505del	NP_001340129.1:p.Leu502del
NM_001374689.1:c.1947_1949del	NP_001361618.1:p.Leu650del
NM_001374690.1:c.1740_1742del	NP_001361619.1:p.Leu581del
NM_001374691.1:c.1608_1610del	NP_001361620.1:p.Leu537del
NM_001374692.1:c.1608_1610del	NP_001361621.1:p.Leu537del
NM_001374693.1:c.1608_1610del	NP_001361622.1:p.Leu537del
NM_001374695.1:c.1569_1571del	NP_001361624.1:p.Leu524del
NM_007171.4:c.2025_2027del	NP_009102.4:p.Leu676del
NR_148391.2:n.1993_1995del
NR_148392.2:n.2211_2213del
NR_148393.2:n.2132_2134del
NR_148394.2:n.1886_1888del
NR_148395.2:n.2284_2286del
NR_148396.2:n.1918_1920del
NR_148397.2:n.2043_2045del
NR_148398.2:n.1998_2000del
NR_148399.2:n.2524_2526del
NR_148400.2:n.2123_2125del