Canonical Allele Identifier: CA2740092905

Gene: POMT1

Linked Data

• ClinVar Variation Id: 2947080
• ClinVar RCV Id: RCV003801270

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522236_131522237delinsAT , CM000671.2:g.131522236_131522237delinsAT	GRCh38
NC_000009.11:g.134397623_134397624delinsAT , CM000671.1:g.134397623_134397624delinsAT	GRCh37
NC_000009.10:g.133387444_133387445delinsAT	NCBI36
NG_008896.1:g.24335_24336delinsAT
NG_008896.2:g.24335_24336delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1841+12_1841+13delinsAT	ENSP00000343034.7:n.1841+12_1841+13delinsAT
ENST00000404875.7:n.2543+12_2543+13delinsAT
ENST00000423007.6:c.2060+12_2060+13delinsAT	ENSP00000404119.2:n.2060+12_2060+13delinsAT
ENST00000677295.2:c.*2347+12_*2347+13delinsAT	ENSP00000504346.2:n.*2347+12_*2347+13delinsAT
ENST00000678264.2:c.*2186+12_*2186+13delinsAT	ENSP00000503157.2:n.*2186+12_*2186+13delinsAT
ENST00000682070.1:n.2313+12_2313+13delinsAT
ENST00000682813.1:n.2407+12_2407+13delinsAT
ENST00000683392.1:n.4595+12_4595+13delinsAT
ENST00000683712.1:n.2408+12_2408+13delinsAT
ENST00000683900.1:n.3903+12_3903+13delinsAT
ENST00000684062.1:n.2669+12_2669+13delinsAT
ENST00000684579.1:n.3849+12_3849+13delinsAT
ENST00000341012.12:c.1841+12_1841+13delinsAT	ENSP00000343034.7:n.1841+12_1841+13delinsAT
ENST00000372220.5:c.872+12_872+13delinsAT	ENSP00000361294.5:n.872+12_872+13delinsAT
ENST00000372228.9:c.2069+12_2069+13delinsAT	ENSP00000361302.3:n.2069+12_2069+13delinsAT
ENST00000402686.8:c.2003+12_2003+13delinsAT MANE Select	ENSP00000385797.4:n.2003+12_2003+13delinsAT
ENST00000676640.1:c.2003+12_2003+13delinsAT	ENSP00000503281.1:n.2003+12_2003+13delinsAT
ENST00000676803.1:c.1064+12_1064+13delinsAT	ENSP00000503093.1:n.1064+12_1064+13delinsAT
ENST00000676835.1:c.*1218+12_*1218+13delinsAT	ENSP00000502911.1:n.*1218+12_*1218+13delinsAT
ENST00000677029.1:c.1547+12_1547+13delinsAT	ENSP00000502936.1:n.1547+12_1547+13delinsAT
ENST00000677099.1:c.*1713+12_*1713+13delinsAT	ENSP00000504553.1:n.*1713+12_*1713+13delinsAT
ENST00000677216.1:c.1652+12_1652+13delinsAT	ENSP00000503772.1:n.1652+12_1652+13delinsAT
ENST00000677221.1:n.1028+12_1028+13delinsAT
ENST00000677295.1:c.*1225+12_*1225+13delinsAT	ENSP00000504346.1:n.*1225+12_*1225+13delinsAT
ENST00000677444.1:c.1948+12_1948+13delinsAT
ENST00000677586.1:n.1370+12_1370+13delinsAT
ENST00000677626.1:c.1652+12_1652+13delinsAT	ENSP00000503552.1:n.1652+12_1652+13delinsAT
ENST00000677853.1:c.*1011+12_*1011+13delinsAT	ENSP00000503488.1:n.*1011+12_*1011+13delinsAT
ENST00000678264.1:c.*1380+12_*1380+13delinsAT	ENSP00000503157.1:n.*1380+12_*1380+13delinsAT
ENST00000678303.1:c.1913+12_1913+13delinsAT	ENSP00000503696.1:n.1913+12_1913+13delinsAT
ENST00000678366.1:c.*2252+12_*2252+13delinsAT	ENSP00000504353.1:n.*2252+12_*2252+13delinsAT
ENST00000678546.1:c.*1948+12_*1948+13delinsAT	ENSP00000503062.1:n.*1948+12_*1948+13delinsAT
ENST00000678548.1:c.*2142+12_*2142+13delinsAT	ENSP00000503934.1:n.*2142+12_*2142+13delinsAT
ENST00000678626.1:n.1839+12_1839+13delinsAT
ENST00000678739.1:c.*2169+12_*2169+13delinsAT	ENSP00000503806.1:n.*2169+12_*2169+13delinsAT
ENST00000678833.1:c.*1755+12_*1755+13delinsAT	ENSP00000503893.1:n.*1755+12_*1755+13delinsAT
ENST00000679023.1:c.1841+12_1841+13delinsAT	ENSP00000503718.1:n.1841+12_1841+13delinsAT
ENST00000679076.1:c.1622+12_1622+13delinsAT
ENST00000679111.1:c.*759+12_*759+13delinsAT	ENSP00000504257.1:n.*759+12_*759+13delinsAT
ENST00000679189.1:c.1652+12_1652+13delinsAT	ENSP00000503356.1:n.1652+12_1652+13delinsAT
ENST00000341012.11:c.1841+12_1841+13delinsAT	ENSP00000343034.7:n.1841+12_1841+13delinsAT
ENST00000372220.4:c.866+12_866+13delinsAT	ENSP00000361294.4:n.866+12_866+13delinsAT
ENST00000372228.7:c.2069+12_2069+13delinsAT	ENSP00000361302.3:n.2069+12_2069+13delinsAT
ENST00000402686.7:c.2003+12_2003+13delinsAT	ENSP00000385797.3:n.2003+12_2003+13delinsAT
ENST00000404875.6:c.1652+12_1652+13delinsAT	ENSP00000384531.2:n.1652+12_1652+13delinsAT
ENST00000423007.5:c.2003+12_2003+13delinsAT	ENSP00000404119.1:n.2003+12_2003+13delinsAT
ENST00000485278.5:n.2553+12_2553+13delinsAT
ENST00000494883.1:n.558_559delinsAT
NM_001077365.1:c.2003+12_2003+13delinsAT	NP_001070833.1:n.2003+12_2003+13delinsAT
NM_001077366.1:c.1841+12_1841+13delinsAT	NP_001070834.1:n.1841+12_1841+13delinsAT
NM_001136113.1:c.2003+12_2003+13delinsAT	NP_001129585.1:n.2003+12_2003+13delinsAT
NM_001136114.1:c.1652+12_1652+13delinsAT	NP_001129586.1:n.1652+12_1652+13delinsAT
NM_007171.3:c.2069+12_2069+13delinsAT	NP_009102.3:n.2069+12_2069+13delinsAT
XM_005272156.1:c.2069+12_2069+13delinsAT	XP_005272213.1:n.2069+12_2069+13delinsAT
XM_005272158.1:c.1907+12_1907+13delinsAT	XP_005272215.1:n.1907+12_1907+13delinsAT
XM_005272159.1:c.1718+12_1718+13delinsAT	XP_005272216.1:n.1718+12_1718+13delinsAT
XM_005272162.1:c.872+12_872+13delinsAT	XP_005272219.1:n.872+12_872+13delinsAT
XM_006716932.1:c.1718+12_1718+13delinsAT	XP_006716995.1:n.1718+12_1718+13delinsAT
XM_011518140.1:c.1922+12_1922+13delinsAT	XP_011516442.1:n.1922+12_1922+13delinsAT
XM_011518141.1:c.1856+12_1856+13delinsAT	XP_011516443.1:n.1856+12_1856+13delinsAT
XM_011518142.1:c.1760+12_1760+13delinsAT	XP_011516444.1:n.1760+12_1760+13delinsAT
XM_011518143.1:c.1754+12_1754+13delinsAT	XP_011516445.1:n.1754+12_1754+13delinsAT
XM_011518145.1:c.1613+12_1613+13delinsAT	XP_011516447.1:n.1613+12_1613+13delinsAT
XM_011518147.1:c.941+12_941+13delinsAT	XP_011516449.1:n.941+12_941+13delinsAT
XR_929703.1:n.2245+12_2245+13delinsAT
NM_001353193.1:c.2069+12_2069+13delinsAT	NP_001340122.1:n.2069+12_2069+13delinsAT
NM_001353194.1:c.1841+12_1841+13delinsAT	NP_001340123.1:n.1841+12_1841+13delinsAT
NM_001353195.1:c.1652+12_1652+13delinsAT	NP_001340124.1:n.1652+12_1652+13delinsAT
NM_001353196.1:c.1913+12_1913+13delinsAT	NP_001340125.1:n.1913+12_1913+13delinsAT
NM_001353197.1:c.1907+12_1907+13delinsAT	NP_001340126.1:n.1907+12_1907+13delinsAT
NM_001353198.1:c.1907+12_1907+13delinsAT	NP_001340127.1:n.1907+12_1907+13delinsAT
NM_001353199.1:c.1718+12_1718+13delinsAT	NP_001340128.1:n.1718+12_1718+13delinsAT
NM_001353200.1:c.1547+12_1547+13delinsAT	NP_001340129.1:n.1547+12_1547+13delinsAT
NR_148391.1:n.2053+12_2053+13delinsAT
NR_148392.1:n.2271+12_2271+13delinsAT
NR_148393.1:n.2192+12_2192+13delinsAT
NR_148394.1:n.1946+12_1946+13delinsAT
NR_148395.1:n.2344+12_2344+13delinsAT
NR_148396.1:n.1978+12_1978+13delinsAT
NR_148397.1:n.2103+12_2103+13delinsAT
NR_148398.1:n.2058+12_2058+13delinsAT
NR_148399.1:n.2584+12_2584+13delinsAT
NR_148400.1:n.2183+12_2183+13delinsAT
XM_005272162.3:c.872+12_872+13delinsAT	XP_005272219.1:n.872+12_872+13delinsAT
XM_006716932.2:c.1718+12_1718+13delinsAT	XP_006716995.1:n.1718+12_1718+13delinsAT
XM_011518140.2:c.1922+12_1922+13delinsAT	XP_011516442.1:n.1922+12_1922+13delinsAT
XM_011518141.2:c.1856+12_1856+13delinsAT	XP_011516443.1:n.1856+12_1856+13delinsAT
XM_011518142.2:c.1760+12_1760+13delinsAT	XP_011516444.1:n.1760+12_1760+13delinsAT
XM_011518143.2:c.1754+12_1754+13delinsAT	XP_011516445.1:n.1754+12_1754+13delinsAT
XM_011518145.2:c.1613+12_1613+13delinsAT	XP_011516447.1:n.1613+12_1613+13delinsAT
XM_017014205.2:c.872+12_872+13delinsAT	XP_016869694.1:n.872+12_872+13delinsAT
XM_024447380.1:c.872+12_872+13delinsAT	XP_024303148.1:n.872+12_872+13delinsAT
XM_024447381.1:c.1178+12_1178+13delinsAT	XP_024303149.1:n.1178+12_1178+13delinsAT
XM_024447382.1:c.872+12_872+13delinsAT	XP_024303150.1:n.872+12_872+13delinsAT
XR_001746160.2:n.2173+12_2173+13delinsAT
XR_001746162.2:n.2378+12_2378+13delinsAT
XR_001746164.1:n.2095+12_2095+13delinsAT
XR_001746166.2:n.2390+12_2390+13delinsAT
NM_001077365.2:c.2003+12_2003+13delinsAT MANE Select	NP_001070833.1:n.2003+12_2003+13delinsAT
NM_001077366.2:c.1841+12_1841+13delinsAT	NP_001070834.1:n.1841+12_1841+13delinsAT
NM_001136113.2:c.2003+12_2003+13delinsAT	NP_001129585.1:n.2003+12_2003+13delinsAT
NM_001136114.2:c.1652+12_1652+13delinsAT	NP_001129586.1:n.1652+12_1652+13delinsAT
NM_001353193.2:c.2069+12_2069+13delinsAT	NP_001340122.2:n.2069+12_2069+13delinsAT
NM_001353194.2:c.1841+12_1841+13delinsAT	NP_001340123.1:n.1841+12_1841+13delinsAT
NM_001353195.2:c.1652+12_1652+13delinsAT	NP_001340124.1:n.1652+12_1652+13delinsAT
NM_001353196.2:c.1913+12_1913+13delinsAT	NP_001340125.1:n.1913+12_1913+13delinsAT
NM_001353197.2:c.1907+12_1907+13delinsAT	NP_001340126.2:n.1907+12_1907+13delinsAT
NM_001353198.2:c.1907+12_1907+13delinsAT	NP_001340127.2:n.1907+12_1907+13delinsAT
NM_001353199.2:c.1718+12_1718+13delinsAT	NP_001340128.2:n.1718+12_1718+13delinsAT
NM_001353200.2:c.1547+12_1547+13delinsAT	NP_001340129.1:n.1547+12_1547+13delinsAT
NM_001374689.1:c.1991+12_1991+13delinsAT	NP_001361618.1:n.1991+12_1991+13delinsAT
NM_001374690.1:c.1784+12_1784+13delinsAT	NP_001361619.1:n.1784+12_1784+13delinsAT
NM_001374691.1:c.1652+12_1652+13delinsAT	NP_001361620.1:n.1652+12_1652+13delinsAT
NM_001374692.1:c.1652+12_1652+13delinsAT	NP_001361621.1:n.1652+12_1652+13delinsAT
NM_001374693.1:c.1652+12_1652+13delinsAT	NP_001361622.1:n.1652+12_1652+13delinsAT
NM_001374695.1:c.1613+12_1613+13delinsAT	NP_001361624.1:n.1613+12_1613+13delinsAT
NM_007171.4:c.2069+12_2069+13delinsAT	NP_009102.4:n.2069+12_2069+13delinsAT
NR_148391.2:n.2037+12_2037+13delinsAT
NR_148392.2:n.2255+12_2255+13delinsAT
NR_148393.2:n.2176+12_2176+13delinsAT
NR_148394.2:n.1930+12_1930+13delinsAT
NR_148395.2:n.2328+12_2328+13delinsAT
NR_148396.2:n.1962+12_1962+13delinsAT
NR_148397.2:n.2087+12_2087+13delinsAT
NR_148398.2:n.2042+12_2042+13delinsAT
NR_148399.2:n.2568+12_2568+13delinsAT
NR_148400.2:n.2167+12_2167+13delinsAT