Canonical Allele Identifier: CA1881760390

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523039_131523046delinsTCTCGCCA , CM000671.2:g.131523039_131523046delinsTCTCGCCA	GRCh38
NC_000009.11:g.134398426_134398433delinsTCTCGCCA , CM000671.1:g.134398426_134398433delinsTCTCGCCA	GRCh37
NC_000009.10:g.133388247_133388254delinsTCTCGCCA	NCBI36
NG_008896.1:g.25138_25145delinsTCTCGCCA
NG_008896.2:g.25138_25145delinsTCTCGCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1949_1956delinsTCTCGCCA	ENSP00000343034.7:p.Leu650=
ENST00000404875.7:n.2651_2658delinsTCTCGCCA
ENST00000423007.6:c.2168_2175delinsTCTCGCCA	ENSP00000404119.2:p.Leu723=
ENST00000677295.2:c.*2455_*2462delinsTCTCGCCA	ENSP00000504346.2:n.*2455_*2462delinsTCTCGCCA
ENST00000678264.2:c.*2294_*2301delinsTCTCGCCA	ENSP00000503157.2:n.*2294_*2301delinsTCTCGCCA
ENST00000682070.1:n.2421_2428delinsTCTCGCCA
ENST00000682639.1:c.108_115delinsTCTCGCCA
ENST00000682813.1:n.2508_2515delinsTCTCGCCA
ENST00000683231.1:c.108_115delinsTCTCGCCA
ENST00000683392.1:n.4703_4710delinsTCTCGCCA
ENST00000683712.1:n.2516_2523delinsTCTCGCCA
ENST00000683900.1:n.4011_4018delinsTCTCGCCA
ENST00000684062.1:n.2777_2784delinsTCTCGCCA
ENST00000684399.1:c.108_115delinsTCTCGCCA
ENST00000684579.1:n.3957_3964delinsTCTCGCCA
ENST00000341012.12:c.1949_1956delinsTCTCGCCA	ENSP00000343034.7:p.Leu650=
ENST00000372220.5:c.980_987delinsTCTCGCCA	ENSP00000361294.5:p.Leu327=
ENST00000372228.9:c.2177_2184delinsTCTCGCCA	ENSP00000361302.3:p.Leu726=
ENST00000402686.8:c.2111_2118delinsTCTCGCCA MANE Select	ENSP00000385797.4:p.Leu704=
ENST00000676640.1:c.2111_2118delinsTCTCGCCA	ENSP00000503281.1:p.Leu704=
ENST00000676803.1:c.1172_1179delinsTCTCGCCA	ENSP00000503093.1:p.Leu391=
ENST00000676835.1:c.*1326_*1333delinsTCTCGCCA	ENSP00000502911.1:n.*1326_*1333delinsTCTCGCCA
ENST00000677029.1:c.1655_1662delinsTCTCGCCA	ENSP00000502936.1:p.Leu552=
ENST00000677099.1:c.*1821_*1828delinsTCTCGCCA	ENSP00000504553.1:n.*1821_*1828delinsTCTCGCCA
ENST00000677216.1:c.1760_1767delinsTCTCGCCA	ENSP00000503772.1:p.Leu587=
ENST00000677295.1:c.*1333_*1340delinsTCTCGCCA	ENSP00000504346.1:n.*1333_*1340delinsTCTCGCCA
ENST00000677444.1:c.2056_2063delinsTCTCGCCA
ENST00000677586.1:n.1478_1485delinsTCTCGCCA
ENST00000677626.1:c.1760_1767delinsTCTCGCCA	ENSP00000503552.1:p.Leu587=
ENST00000677853.1:c.*1119_*1126delinsTCTCGCCA	ENSP00000503488.1:n.*1119_*1126delinsTCTCGCCA
ENST00000678264.1:c.*1488_*1495delinsTCTCGCCA	ENSP00000503157.1:n.*1488_*1495delinsTCTCGCCA
ENST00000678303.1:c.2021_2028delinsTCTCGCCA	ENSP00000503696.1:p.Leu674=
ENST00000678366.1:c.*2360_*2367delinsTCTCGCCA	ENSP00000504353.1:n.*2360_*2367delinsTCTCGCCA
ENST00000678546.1:c.*2056_*2063delinsTCTCGCCA	ENSP00000503062.1:n.*2056_*2063delinsTCTCGCCA
ENST00000678548.1:c.*2250_*2257delinsTCTCGCCA	ENSP00000503934.1:n.*2250_*2257delinsTCTCGCCA
ENST00000678626.1:n.1947_1954delinsTCTCGCCA
ENST00000678739.1:c.*2277_*2284delinsTCTCGCCA	ENSP00000503806.1:n.*2277_*2284delinsTCTCGCCA
ENST00000678833.1:c.*1863_*1870delinsTCTCGCCA	ENSP00000503893.1:n.*1863_*1870delinsTCTCGCCA
ENST00000679023.1:c.1949_1956delinsTCTCGCCA	ENSP00000503718.1:p.Leu650=
ENST00000679076.1:c.1730_1737delinsTCTCGCCA
ENST00000679111.1:c.*867_*874delinsTCTCGCCA	ENSP00000504257.1:n.*867_*874delinsTCTCGCCA
ENST00000679189.1:c.1760_1767delinsTCTCGCCA	ENSP00000503356.1:p.Leu587=
ENST00000341012.11:c.1949_1956delinsTCTCGCCA	ENSP00000343034.7:p.Leu650=
ENST00000372220.4:c.974_981delinsTCTCGCCA	ENSP00000361294.4:p.Leu325=
ENST00000372228.7:c.2177_2184delinsTCTCGCCA	ENSP00000361302.3:p.Leu726=
ENST00000402686.7:c.2111_2118delinsTCTCGCCA	ENSP00000385797.3:p.Leu704=
ENST00000404875.6:c.1760_1767delinsTCTCGCCA	ENSP00000384531.2:p.Leu587=
ENST00000423007.5:c.2111_2118delinsTCTCGCCA	ENSP00000404119.1:p.Leu704=
ENST00000485278.5:n.2661_2668delinsTCTCGCCA
NM_001077365.1:c.2111_2118delinsTCTCGCCA	NP_001070833.1:p.Leu704=
NM_001077366.1:c.1949_1956delinsTCTCGCCA	NP_001070834.1:p.Leu650=
NM_001136113.1:c.2111_2118delinsTCTCGCCA	NP_001129585.1:p.Leu704=
NM_001136114.1:c.1760_1767delinsTCTCGCCA	NP_001129586.1:p.Leu587=
NM_007171.3:c.2177_2184delinsTCTCGCCA	NP_009102.3:p.Leu726=
XM_005272156.1:c.2177_2184delinsTCTCGCCA	XP_005272213.1:p.Leu726=
XM_005272158.1:c.2015_2022delinsTCTCGCCA	XP_005272215.1:p.Leu672=
XM_005272159.1:c.1826_1833delinsTCTCGCCA	XP_005272216.1:p.Leu609=
XM_005272162.1:c.980_987delinsTCTCGCCA	XP_005272219.1:p.Leu327=
XM_006716932.1:c.1826_1833delinsTCTCGCCA	XP_006716995.1:p.Leu609=
XM_011518140.1:c.2030_2037delinsTCTCGCCA	XP_011516442.1:p.Leu677=
XM_011518141.1:c.1964_1971delinsTCTCGCCA	XP_011516443.1:p.Leu655=
XM_011518142.1:c.1868_1875delinsTCTCGCCA	XP_011516444.1:p.Leu623=
XM_011518143.1:c.1862_1869delinsTCTCGCCA	XP_011516445.1:p.Leu621=
XM_011518145.1:c.1721_1728delinsTCTCGCCA	XP_011516447.1:p.Leu574=
XM_011518147.1:c.1049_1056delinsTCTCGCCA	XP_011516449.1:p.Leu350=
XR_929703.1:n.2353_2360delinsTCTCGCCA
NM_001353193.1:c.2177_2184delinsTCTCGCCA	NP_001340122.1:p.Leu726=
NM_001353194.1:c.1949_1956delinsTCTCGCCA	NP_001340123.1:p.Leu650=
NM_001353195.1:c.1760_1767delinsTCTCGCCA	NP_001340124.1:p.Leu587=
NM_001353196.1:c.2021_2028delinsTCTCGCCA	NP_001340125.1:p.Leu674=
NM_001353197.1:c.2015_2022delinsTCTCGCCA	NP_001340126.1:p.Leu672=
NM_001353198.1:c.2015_2022delinsTCTCGCCA	NP_001340127.1:p.Leu672=
NM_001353199.1:c.1826_1833delinsTCTCGCCA	NP_001340128.1:p.Leu609=
NM_001353200.1:c.1655_1662delinsTCTCGCCA	NP_001340129.1:p.Leu552=
NR_148391.1:n.2161_2168delinsTCTCGCCA
NR_148392.1:n.2379_2386delinsTCTCGCCA
NR_148393.1:n.2300_2307delinsTCTCGCCA
NR_148394.1:n.2054_2061delinsTCTCGCCA
NR_148395.1:n.2452_2459delinsTCTCGCCA
NR_148396.1:n.2086_2093delinsTCTCGCCA
NR_148397.1:n.2211_2218delinsTCTCGCCA
NR_148398.1:n.2166_2173delinsTCTCGCCA
NR_148399.1:n.2692_2699delinsTCTCGCCA
NR_148400.1:n.2291_2298delinsTCTCGCCA
XM_005272162.3:c.980_987delinsTCTCGCCA	XP_005272219.1:p.Leu327=
XM_006716932.2:c.1826_1833delinsTCTCGCCA	XP_006716995.1:p.Leu609=
XM_011518140.2:c.2030_2037delinsTCTCGCCA	XP_011516442.1:p.Leu677=
XM_011518141.2:c.1964_1971delinsTCTCGCCA	XP_011516443.1:p.Leu655=
XM_011518142.2:c.1868_1875delinsTCTCGCCA	XP_011516444.1:p.Leu623=
XM_011518143.2:c.1862_1869delinsTCTCGCCA	XP_011516445.1:p.Leu621=
XM_011518145.2:c.1721_1728delinsTCTCGCCA	XP_011516447.1:p.Leu574=
XM_017014205.2:c.980_987delinsTCTCGCCA	XP_016869694.1:p.Leu327=
XM_024447380.1:c.980_987delinsTCTCGCCA	XP_024303148.1:p.Leu327=
XM_024447381.1:c.1286_1293delinsTCTCGCCA	XP_024303149.1:p.Leu429=
XM_024447382.1:c.980_987delinsTCTCGCCA	XP_024303150.1:p.Leu327=
XR_001746160.2:n.2281_2288delinsTCTCGCCA
XR_001746162.2:n.2486_2493delinsTCTCGCCA
XR_001746164.1:n.2203_2210delinsTCTCGCCA
XR_001746166.2:n.2498_2505delinsTCTCGCCA
NM_001077365.2:c.2111_2118delinsTCTCGCCA MANE Select	NP_001070833.1:p.Leu704=
NM_001077366.2:c.1949_1956delinsTCTCGCCA	NP_001070834.1:p.Leu650=
NM_001136113.2:c.2111_2118delinsTCTCGCCA	NP_001129585.1:p.Leu704=
NM_001136114.2:c.1760_1767delinsTCTCGCCA	NP_001129586.1:p.Leu587=
NM_001353193.2:c.2177_2184delinsTCTCGCCA	NP_001340122.2:p.Leu726=
NM_001353194.2:c.1949_1956delinsTCTCGCCA	NP_001340123.1:p.Leu650=
NM_001353195.2:c.1760_1767delinsTCTCGCCA	NP_001340124.1:p.Leu587=
NM_001353196.2:c.2021_2028delinsTCTCGCCA	NP_001340125.1:p.Leu674=
NM_001353197.2:c.2015_2022delinsTCTCGCCA	NP_001340126.2:p.Leu672=
NM_001353198.2:c.2015_2022delinsTCTCGCCA	NP_001340127.2:p.Leu672=
NM_001353199.2:c.1826_1833delinsTCTCGCCA	NP_001340128.2:p.Leu609=
NM_001353200.2:c.1655_1662delinsTCTCGCCA	NP_001340129.1:p.Leu552=
NM_001374689.1:c.2099_2106delinsTCTCGCCA	NP_001361618.1:p.Leu700=
NM_001374690.1:c.1892_1899delinsTCTCGCCA	NP_001361619.1:p.Leu631=
NM_001374691.1:c.1760_1767delinsTCTCGCCA	NP_001361620.1:p.Leu587=
NM_001374692.1:c.1760_1767delinsTCTCGCCA	NP_001361621.1:p.Leu587=
NM_001374693.1:c.1760_1767delinsTCTCGCCA	NP_001361622.1:p.Leu587=
NM_001374695.1:c.1721_1728delinsTCTCGCCA	NP_001361624.1:p.Leu574=
NM_007171.4:c.2177_2184delinsTCTCGCCA	NP_009102.4:p.Leu726=
NR_148391.2:n.2145_2152delinsTCTCGCCA
NR_148392.2:n.2363_2370delinsTCTCGCCA
NR_148393.2:n.2284_2291delinsTCTCGCCA
NR_148394.2:n.2038_2045delinsTCTCGCCA
NR_148395.2:n.2436_2443delinsTCTCGCCA
NR_148396.2:n.2070_2077delinsTCTCGCCA
NR_148397.2:n.2195_2202delinsTCTCGCCA
NR_148398.2:n.2150_2157delinsTCTCGCCA
NR_148399.2:n.2676_2683delinsTCTCGCCA
NR_148400.2:n.2275_2282delinsTCTCGCCA