Canonical Allele Identifier: CA1881760483

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523067_131523068delinsCT , CM000671.2:g.131523067_131523068delinsCT	GRCh38
NC_000009.11:g.134398454_134398455delinsCT , CM000671.1:g.134398454_134398455delinsCT	GRCh37
NC_000009.10:g.133388275_133388276delinsCT	NCBI36
NG_008896.1:g.25166_25167delinsCT
NG_008896.2:g.25166_25167delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1977_1978delinsCT	ENSP00000343034.7:p.Arg659=
ENST00000404875.7:n.2679_2680delinsCT
ENST00000423007.6:c.2196_2197delinsCT	ENSP00000404119.2:p.Arg732=
ENST00000677295.2:c.*2483_*2484delinsCT	ENSP00000504346.2:n.*2483_*2484delinsCT
ENST00000678264.2:c.*2322_*2323delinsCT	ENSP00000503157.2:n.*2322_*2323delinsCT
ENST00000682070.1:n.2449_2450delinsCT
ENST00000682639.1:c.136_137delinsCT
ENST00000682813.1:n.2536_2537delinsCT
ENST00000683231.1:c.136_137delinsCT
ENST00000683392.1:n.4731_4732delinsCT
ENST00000683712.1:n.2544_2545delinsCT
ENST00000683900.1:n.4039_4040delinsCT
ENST00000684062.1:n.2805_2806delinsCT
ENST00000684399.1:c.136_137delinsCT
ENST00000684579.1:n.3985_3986delinsCT
ENST00000341012.12:c.1977_1978delinsCT	ENSP00000343034.7:p.Arg659=
ENST00000372220.5:c.1008_1009delinsCT	ENSP00000361294.5:p.Arg336=
ENST00000372228.9:c.2205_2206delinsCT	ENSP00000361302.3:p.Arg735=
ENST00000402686.8:c.2139_2140delinsCT MANE Select	ENSP00000385797.4:p.Arg713=
ENST00000676640.1:c.2139_2140delinsCT	ENSP00000503281.1:p.Arg713=
ENST00000676803.1:c.1200_1201delinsCT	ENSP00000503093.1:p.Arg400=
ENST00000676835.1:c.*1354_*1355delinsCT	ENSP00000502911.1:n.*1354_*1355delinsCT
ENST00000677029.1:c.1683_1684delinsCT	ENSP00000502936.1:p.Arg561=
ENST00000677099.1:c.*1849_*1850delinsCT	ENSP00000504553.1:n.*1849_*1850delinsCT
ENST00000677216.1:c.1788_1789delinsCT	ENSP00000503772.1:p.Arg596=
ENST00000677295.1:c.*1361_*1362delinsCT	ENSP00000504346.1:n.*1361_*1362delinsCT
ENST00000677444.1:c.2084_2085delinsCT
ENST00000677586.1:n.1506_1507delinsCT
ENST00000677626.1:c.1788_1789delinsCT	ENSP00000503552.1:p.Arg596=
ENST00000677853.1:c.*1147_*1148delinsCT	ENSP00000503488.1:n.*1147_*1148delinsCT
ENST00000678264.1:c.*1516_*1517delinsCT	ENSP00000503157.1:n.*1516_*1517delinsCT
ENST00000678303.1:c.2049_2050delinsCT	ENSP00000503696.1:p.Arg683=
ENST00000678366.1:c.*2388_*2389delinsCT	ENSP00000504353.1:n.*2388_*2389delinsCT
ENST00000678546.1:c.*2084_*2085delinsCT	ENSP00000503062.1:n.*2084_*2085delinsCT
ENST00000678548.1:c.*2278_*2279delinsCT	ENSP00000503934.1:n.*2278_*2279delinsCT
ENST00000678626.1:n.1975_1976delinsCT
ENST00000678739.1:c.*2305_*2306delinsCT	ENSP00000503806.1:n.*2305_*2306delinsCT
ENST00000678833.1:c.*1891_*1892delinsCT	ENSP00000503893.1:n.*1891_*1892delinsCT
ENST00000679023.1:c.1977_1978delinsCT	ENSP00000503718.1:p.Arg659=
ENST00000679076.1:c.1758_1759delinsCT
ENST00000679111.1:c.*895_*896delinsCT	ENSP00000504257.1:n.*895_*896delinsCT
ENST00000679189.1:c.1788_1789delinsCT	ENSP00000503356.1:p.Arg596=
ENST00000341012.11:c.1977_1978delinsCT	ENSP00000343034.7:p.Arg659=
ENST00000372220.4:c.1002_1003delinsCT	ENSP00000361294.4:p.Arg334=
ENST00000372228.7:c.2205_2206delinsCT	ENSP00000361302.3:p.Arg735=
ENST00000402686.7:c.2139_2140delinsCT	ENSP00000385797.3:p.Arg713=
ENST00000404875.6:c.1788_1789delinsCT	ENSP00000384531.2:p.Arg596=
ENST00000423007.5:c.2139_2140delinsCT	ENSP00000404119.1:p.Arg713=
ENST00000485278.5:n.2689_2690delinsCT
NM_001077365.1:c.2139_2140delinsCT	NP_001070833.1:p.Arg713=
NM_001077366.1:c.1977_1978delinsCT	NP_001070834.1:p.Arg659=
NM_001136113.1:c.2139_2140delinsCT	NP_001129585.1:p.Arg713=
NM_001136114.1:c.1788_1789delinsCT	NP_001129586.1:p.Arg596=
NM_007171.3:c.2205_2206delinsCT	NP_009102.3:p.Arg735=
XM_005272156.1:c.2205_2206delinsCT	XP_005272213.1:p.Arg735=
XM_005272158.1:c.2043_2044delinsCT	XP_005272215.1:p.Arg681=
XM_005272159.1:c.1854_1855delinsCT	XP_005272216.1:p.Arg618=
XM_005272162.1:c.1008_1009delinsCT	XP_005272219.1:p.Arg336=
XM_006716932.1:c.1854_1855delinsCT	XP_006716995.1:p.Arg618=
XM_011518140.1:c.2058_2059delinsCT	XP_011516442.1:p.Arg686=
XM_011518141.1:c.1992_1993delinsCT	XP_011516443.1:p.Arg664=
XM_011518142.1:c.1896_1897delinsCT	XP_011516444.1:p.Arg632=
XM_011518143.1:c.1890_1891delinsCT	XP_011516445.1:p.Arg630=
XM_011518145.1:c.1749_1750delinsCT	XP_011516447.1:p.Arg583=
XM_011518147.1:c.1077_1078delinsCT	XP_011516449.1:p.Arg359=
XR_929703.1:n.2381_2382delinsCT
NM_001353193.1:c.2205_2206delinsCT	NP_001340122.1:p.Arg735=
NM_001353194.1:c.1977_1978delinsCT	NP_001340123.1:p.Arg659=
NM_001353195.1:c.1788_1789delinsCT	NP_001340124.1:p.Arg596=
NM_001353196.1:c.2049_2050delinsCT	NP_001340125.1:p.Arg683=
NM_001353197.1:c.2043_2044delinsCT	NP_001340126.1:p.Arg681=
NM_001353198.1:c.2043_2044delinsCT	NP_001340127.1:p.Arg681=
NM_001353199.1:c.1854_1855delinsCT	NP_001340128.1:p.Arg618=
NM_001353200.1:c.1683_1684delinsCT	NP_001340129.1:p.Arg561=
NR_148391.1:n.2189_2190delinsCT
NR_148392.1:n.2407_2408delinsCT
NR_148393.1:n.2328_2329delinsCT
NR_148394.1:n.2082_2083delinsCT
NR_148395.1:n.2480_2481delinsCT
NR_148396.1:n.2114_2115delinsCT
NR_148397.1:n.2239_2240delinsCT
NR_148398.1:n.2194_2195delinsCT
NR_148399.1:n.2720_2721delinsCT
NR_148400.1:n.2319_2320delinsCT
XM_005272162.3:c.1008_1009delinsCT	XP_005272219.1:p.Arg336=
XM_006716932.2:c.1854_1855delinsCT	XP_006716995.1:p.Arg618=
XM_011518140.2:c.2058_2059delinsCT	XP_011516442.1:p.Arg686=
XM_011518141.2:c.1992_1993delinsCT	XP_011516443.1:p.Arg664=
XM_011518142.2:c.1896_1897delinsCT	XP_011516444.1:p.Arg632=
XM_011518143.2:c.1890_1891delinsCT	XP_011516445.1:p.Arg630=
XM_011518145.2:c.1749_1750delinsCT	XP_011516447.1:p.Arg583=
XM_017014205.2:c.1008_1009delinsCT	XP_016869694.1:p.Arg336=
XM_024447380.1:c.1008_1009delinsCT	XP_024303148.1:p.Arg336=
XM_024447381.1:c.1314_1315delinsCT	XP_024303149.1:p.Arg438=
XM_024447382.1:c.1008_1009delinsCT	XP_024303150.1:p.Arg336=
XR_001746160.2:n.2309_2310delinsCT
XR_001746162.2:n.2514_2515delinsCT
XR_001746164.1:n.2231_2232delinsCT
XR_001746166.2:n.2526_2527delinsCT
NM_001077365.2:c.2139_2140delinsCT MANE Select	NP_001070833.1:p.Arg713=
NM_001077366.2:c.1977_1978delinsCT	NP_001070834.1:p.Arg659=
NM_001136113.2:c.2139_2140delinsCT	NP_001129585.1:p.Arg713=
NM_001136114.2:c.1788_1789delinsCT	NP_001129586.1:p.Arg596=
NM_001353193.2:c.2205_2206delinsCT	NP_001340122.2:p.Arg735=
NM_001353194.2:c.1977_1978delinsCT	NP_001340123.1:p.Arg659=
NM_001353195.2:c.1788_1789delinsCT	NP_001340124.1:p.Arg596=
NM_001353196.2:c.2049_2050delinsCT	NP_001340125.1:p.Arg683=
NM_001353197.2:c.2043_2044delinsCT	NP_001340126.2:p.Arg681=
NM_001353198.2:c.2043_2044delinsCT	NP_001340127.2:p.Arg681=
NM_001353199.2:c.1854_1855delinsCT	NP_001340128.2:p.Arg618=
NM_001353200.2:c.1683_1684delinsCT	NP_001340129.1:p.Arg561=
NM_001374689.1:c.2127_2128delinsCT	NP_001361618.1:p.Arg709=
NM_001374690.1:c.1920_1921delinsCT	NP_001361619.1:p.Arg640=
NM_001374691.1:c.1788_1789delinsCT	NP_001361620.1:p.Arg596=
NM_001374692.1:c.1788_1789delinsCT	NP_001361621.1:p.Arg596=
NM_001374693.1:c.1788_1789delinsCT	NP_001361622.1:p.Arg596=
NM_001374695.1:c.1749_1750delinsCT	NP_001361624.1:p.Arg583=
NM_007171.4:c.2205_2206delinsCT	NP_009102.4:p.Arg735=
NR_148391.2:n.2173_2174delinsCT
NR_148392.2:n.2391_2392delinsCT
NR_148393.2:n.2312_2313delinsCT
NR_148394.2:n.2066_2067delinsCT
NR_148395.2:n.2464_2465delinsCT
NR_148396.2:n.2098_2099delinsCT
NR_148397.2:n.2223_2224delinsCT
NR_148398.2:n.2178_2179delinsCT
NR_148399.2:n.2704_2705delinsCT
NR_148400.2:n.2303_2304delinsCT