Canonical Allele Identifier: CA1881759988

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522961_131522972delinsCCCTGGTGGTGG , CM000671.2:g.131522961_131522972delinsCCCTGGTGGTGG	GRCh38
NC_000009.11:g.134398348_134398359delinsCCCTGGTGGTGG , CM000671.1:g.134398348_134398359delinsCCCTGGTGGTGG	GRCh37
NC_000009.10:g.133388169_133388180delinsCCCTGGTGGTGG	NCBI36
NG_008896.1:g.25060_25071delinsCCCTGGTGGTGG
NG_008896.2:g.25060_25071delinsCCCTGGTGGTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1871_1882delinsCCCTGGTGGTGG	ENSP00000343034.7:p.Ala624=
ENST00000404875.7:n.2573_2584delinsCCCTGGTGGTGG
ENST00000423007.6:c.2090_2101delinsCCCTGGTGGTGG	ENSP00000404119.2:p.Ala697=
ENST00000677295.2:c.*2377_*2388delinsCCCTGGTGGTGG	ENSP00000504346.2:n.*2377_*2388delinsCCCT...
ENST00000678264.2:c.*2216_*2227delinsCCCTGGTGGTGG	ENSP00000503157.2:n.*2216_*2227delinsCCCT...
ENST00000682070.1:n.2343_2354delinsCCCTGGTGGTGG
ENST00000682639.1:c.30_41delinsCCCTGGTGGTGG
ENST00000682813.1:n.2430_2441delinsCCCTGGTGGTGG
ENST00000683231.1:c.30_41delinsCCCTGGTGGTGG
ENST00000683392.1:n.4625_4636delinsCCCTGGTGGTGG
ENST00000683712.1:n.2438_2449delinsCCCTGGTGGTGG
ENST00000683900.1:n.3933_3944delinsCCCTGGTGGTGG
ENST00000684062.1:n.2699_2710delinsCCCTGGTGGTGG
ENST00000684399.1:c.30_41delinsCCCTGGTGGTGG
ENST00000684579.1:n.3879_3890delinsCCCTGGTGGTGG
ENST00000341012.12:c.1871_1882delinsCCCTGGTGGTGG	ENSP00000343034.7:p.Ala624=
ENST00000372220.5:c.902_913delinsCCCTGGTGGTGG	ENSP00000361294.5:p.Ala301=
ENST00000372228.9:c.2099_2110delinsCCCTGGTGGTGG	ENSP00000361302.3:p.Ala700=
ENST00000402686.8:c.2033_2044delinsCCCTGGTGGTGG MANE Select	ENSP00000385797.4:p.Ala678=
ENST00000676640.1:c.2033_2044delinsCCCTGGTGGTGG	ENSP00000503281.1:p.Ala678=
ENST00000676803.1:c.1094_1105delinsCCCTGGTGGTGG	ENSP00000503093.1:p.Ala365=
ENST00000676835.1:c.*1248_*1259delinsCCCTGGTGGTGG	ENSP00000502911.1:n.*1248_*1259delinsCCCT...
ENST00000677029.1:c.1577_1588delinsCCCTGGTGGTGG	ENSP00000502936.1:p.Ala526=
ENST00000677099.1:c.*1743_*1754delinsCCCTGGTGGTGG	ENSP00000504553.1:n.*1743_*1754delinsCCCT...
ENST00000677216.1:c.1682_1693delinsCCCTGGTGGTGG	ENSP00000503772.1:p.Ala561=
ENST00000677221.1:n.1058_1069delinsCCCTGGTGGTGG
ENST00000677295.1:c.*1255_*1266delinsCCCTGGTGGTGG	ENSP00000504346.1:n.*1255_*1266delinsCCCT...
ENST00000677444.1:c.1978_1989delinsCCCTGGTGGTGG
ENST00000677586.1:n.1400_1411delinsCCCTGGTGGTGG
ENST00000677626.1:c.1682_1693delinsCCCTGGTGGTGG	ENSP00000503552.1:p.Ala561=
ENST00000677853.1:c.*1041_*1052delinsCCCTGGTGGTGG	ENSP00000503488.1:n.*1041_*1052delinsCCCT...
ENST00000678264.1:c.*1410_*1421delinsCCCTGGTGGTGG	ENSP00000503157.1:n.*1410_*1421delinsCCCT...
ENST00000678303.1:c.1943_1954delinsCCCTGGTGGTGG	ENSP00000503696.1:p.Ala648=
ENST00000678366.1:c.*2282_*2293delinsCCCTGGTGGTGG	ENSP00000504353.1:n.*2282_*2293delinsCCCT...
ENST00000678546.1:c.*1978_*1989delinsCCCTGGTGGTGG	ENSP00000503062.1:n.*1978_*1989delinsCCCT...
ENST00000678548.1:c.*2172_*2183delinsCCCTGGTGGTGG	ENSP00000503934.1:n.*2172_*2183delinsCCCT...
ENST00000678626.1:n.1869_1880delinsCCCTGGTGGTGG
ENST00000678739.1:c.*2199_*2210delinsCCCTGGTGGTGG	ENSP00000503806.1:n.*2199_*2210delinsCCCT...
ENST00000678833.1:c.*1785_*1796delinsCCCTGGTGGTGG	ENSP00000503893.1:n.*1785_*1796delinsCCCT...
ENST00000679023.1:c.1871_1882delinsCCCTGGTGGTGG	ENSP00000503718.1:p.Ala624=
ENST00000679076.1:c.1652_1663delinsCCCTGGTGGTGG
ENST00000679111.1:c.*789_*800delinsCCCTGGTGGTGG	ENSP00000504257.1:n.*789_*800delinsCCCTGG...
ENST00000679189.1:c.1682_1693delinsCCCTGGTGGTGG	ENSP00000503356.1:p.Ala561=
ENST00000341012.11:c.1871_1882delinsCCCTGGTGGTGG	ENSP00000343034.7:p.Ala624=
ENST00000372220.4:c.896_907delinsCCCTGGTGGTGG	ENSP00000361294.4:p.Ala299=
ENST00000372228.7:c.2099_2110delinsCCCTGGTGGTGG	ENSP00000361302.3:p.Ala700=
ENST00000402686.7:c.2033_2044delinsCCCTGGTGGTGG	ENSP00000385797.3:p.Ala678=
ENST00000404875.6:c.1682_1693delinsCCCTGGTGGTGG	ENSP00000384531.2:p.Ala561=
ENST00000423007.5:c.2033_2044delinsCCCTGGTGGTGG	ENSP00000404119.1:p.Ala678=
ENST00000485278.5:n.2583_2594delinsCCCTGGTGGTGG
NM_001077365.1:c.2033_2044delinsCCCTGGTGGTGG	NP_001070833.1:p.Ala678=
NM_001077366.1:c.1871_1882delinsCCCTGGTGGTGG	NP_001070834.1:p.Ala624=
NM_001136113.1:c.2033_2044delinsCCCTGGTGGTGG	NP_001129585.1:p.Ala678=
NM_001136114.1:c.1682_1693delinsCCCTGGTGGTGG	NP_001129586.1:p.Ala561=
NM_007171.3:c.2099_2110delinsCCCTGGTGGTGG	NP_009102.3:p.Ala700=
XM_005272156.1:c.2099_2110delinsCCCTGGTGGTGG	XP_005272213.1:p.Ala700=
XM_005272158.1:c.1937_1948delinsCCCTGGTGGTGG	XP_005272215.1:p.Ala646=
XM_005272159.1:c.1748_1759delinsCCCTGGTGGTGG	XP_005272216.1:p.Ala583=
XM_005272162.1:c.902_913delinsCCCTGGTGGTGG	XP_005272219.1:p.Ala301=
XM_006716932.1:c.1748_1759delinsCCCTGGTGGTGG	XP_006716995.1:p.Ala583=
XM_011518140.1:c.1952_1963delinsCCCTGGTGGTGG	XP_011516442.1:p.Ala651=
XM_011518141.1:c.1886_1897delinsCCCTGGTGGTGG	XP_011516443.1:p.Ala629=
XM_011518142.1:c.1790_1801delinsCCCTGGTGGTGG	XP_011516444.1:p.Ala597=
XM_011518143.1:c.1784_1795delinsCCCTGGTGGTGG	XP_011516445.1:p.Ala595=
XM_011518145.1:c.1643_1654delinsCCCTGGTGGTGG	XP_011516447.1:p.Ala548=
XM_011518147.1:c.971_982delinsCCCTGGTGGTGG	XP_011516449.1:p.Ala324=
XR_929703.1:n.2275_2286delinsCCCTGGTGGTGG
NM_001353193.1:c.2099_2110delinsCCCTGGTGGTGG	NP_001340122.1:p.Ala700=
NM_001353194.1:c.1871_1882delinsCCCTGGTGGTGG	NP_001340123.1:p.Ala624=
NM_001353195.1:c.1682_1693delinsCCCTGGTGGTGG	NP_001340124.1:p.Ala561=
NM_001353196.1:c.1943_1954delinsCCCTGGTGGTGG	NP_001340125.1:p.Ala648=
NM_001353197.1:c.1937_1948delinsCCCTGGTGGTGG	NP_001340126.1:p.Ala646=
NM_001353198.1:c.1937_1948delinsCCCTGGTGGTGG	NP_001340127.1:p.Ala646=
NM_001353199.1:c.1748_1759delinsCCCTGGTGGTGG	NP_001340128.1:p.Ala583=
NM_001353200.1:c.1577_1588delinsCCCTGGTGGTGG	NP_001340129.1:p.Ala526=
NR_148391.1:n.2083_2094delinsCCCTGGTGGTGG
NR_148392.1:n.2301_2312delinsCCCTGGTGGTGG
NR_148393.1:n.2222_2233delinsCCCTGGTGGTGG
NR_148394.1:n.1976_1987delinsCCCTGGTGGTGG
NR_148395.1:n.2374_2385delinsCCCTGGTGGTGG
NR_148396.1:n.2008_2019delinsCCCTGGTGGTGG
NR_148397.1:n.2133_2144delinsCCCTGGTGGTGG
NR_148398.1:n.2088_2099delinsCCCTGGTGGTGG
NR_148399.1:n.2614_2625delinsCCCTGGTGGTGG
NR_148400.1:n.2213_2224delinsCCCTGGTGGTGG
XM_005272162.3:c.902_913delinsCCCTGGTGGTGG	XP_005272219.1:p.Ala301=
XM_006716932.2:c.1748_1759delinsCCCTGGTGGTGG	XP_006716995.1:p.Ala583=
XM_011518140.2:c.1952_1963delinsCCCTGGTGGTGG	XP_011516442.1:p.Ala651=
XM_011518141.2:c.1886_1897delinsCCCTGGTGGTGG	XP_011516443.1:p.Ala629=
XM_011518142.2:c.1790_1801delinsCCCTGGTGGTGG	XP_011516444.1:p.Ala597=
XM_011518143.2:c.1784_1795delinsCCCTGGTGGTGG	XP_011516445.1:p.Ala595=
XM_011518145.2:c.1643_1654delinsCCCTGGTGGTGG	XP_011516447.1:p.Ala548=
XM_017014205.2:c.902_913delinsCCCTGGTGGTGG	XP_016869694.1:p.Ala301=
XM_024447380.1:c.902_913delinsCCCTGGTGGTGG	XP_024303148.1:p.Ala301=
XM_024447381.1:c.1208_1219delinsCCCTGGTGGTGG	XP_024303149.1:p.Ala403=
XM_024447382.1:c.902_913delinsCCCTGGTGGTGG	XP_024303150.1:p.Ala301=
XR_001746160.2:n.2203_2214delinsCCCTGGTGGTGG
XR_001746162.2:n.2408_2419delinsCCCTGGTGGTGG
XR_001746164.1:n.2125_2136delinsCCCTGGTGGTGG
XR_001746166.2:n.2420_2431delinsCCCTGGTGGTGG
NM_001077365.2:c.2033_2044delinsCCCTGGTGGTGG MANE Select	NP_001070833.1:p.Ala678=
NM_001077366.2:c.1871_1882delinsCCCTGGTGGTGG	NP_001070834.1:p.Ala624=
NM_001136113.2:c.2033_2044delinsCCCTGGTGGTGG	NP_001129585.1:p.Ala678=
NM_001136114.2:c.1682_1693delinsCCCTGGTGGTGG	NP_001129586.1:p.Ala561=
NM_001353193.2:c.2099_2110delinsCCCTGGTGGTGG	NP_001340122.2:p.Ala700=
NM_001353194.2:c.1871_1882delinsCCCTGGTGGTGG	NP_001340123.1:p.Ala624=
NM_001353195.2:c.1682_1693delinsCCCTGGTGGTGG	NP_001340124.1:p.Ala561=
NM_001353196.2:c.1943_1954delinsCCCTGGTGGTGG	NP_001340125.1:p.Ala648=
NM_001353197.2:c.1937_1948delinsCCCTGGTGGTGG	NP_001340126.2:p.Ala646=
NM_001353198.2:c.1937_1948delinsCCCTGGTGGTGG	NP_001340127.2:p.Ala646=
NM_001353199.2:c.1748_1759delinsCCCTGGTGGTGG	NP_001340128.2:p.Ala583=
NM_001353200.2:c.1577_1588delinsCCCTGGTGGTGG	NP_001340129.1:p.Ala526=
NM_001374689.1:c.2021_2032delinsCCCTGGTGGTGG	NP_001361618.1:p.Ala674=
NM_001374690.1:c.1814_1825delinsCCCTGGTGGTGG	NP_001361619.1:p.Ala605=
NM_001374691.1:c.1682_1693delinsCCCTGGTGGTGG	NP_001361620.1:p.Ala561=
NM_001374692.1:c.1682_1693delinsCCCTGGTGGTGG	NP_001361621.1:p.Ala561=
NM_001374693.1:c.1682_1693delinsCCCTGGTGGTGG	NP_001361622.1:p.Ala561=
NM_001374695.1:c.1643_1654delinsCCCTGGTGGTGG	NP_001361624.1:p.Ala548=
NM_007171.4:c.2099_2110delinsCCCTGGTGGTGG	NP_009102.4:p.Ala700=
NR_148391.2:n.2067_2078delinsCCCTGGTGGTGG
NR_148392.2:n.2285_2296delinsCCCTGGTGGTGG
NR_148393.2:n.2206_2217delinsCCCTGGTGGTGG
NR_148394.2:n.1960_1971delinsCCCTGGTGGTGG
NR_148395.2:n.2358_2369delinsCCCTGGTGGTGG
NR_148396.2:n.1992_2003delinsCCCTGGTGGTGG
NR_148397.2:n.2117_2128delinsCCCTGGTGGTGG
NR_148398.2:n.2072_2083delinsCCCTGGTGGTGG
NR_148399.2:n.2598_2609delinsCCCTGGTGGTGG
NR_148400.2:n.2197_2208delinsCCCTGGTGGTGG