Canonical Allele Identifier: CA278047

Gene: POMT1

Linked Data

• ClinVar Variation Id: 3252
• ClinVar RCV Id: RCV000003408 ; RCV000150016 ; RCV000587199
• dbSNP Id: rs587777819
• gnomAD v3: 9-131523037-ACT-A
• gnomAD v4: 9-131523037-ACT-A
• MyVariant Identifiers: chr9:g.134398428_134398429del (hg19) ; chr9:g.131523041_131523042del (hg38)
• PubMed: PMID:17878207

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523041_131523042del , CM000671.2:g.131523041_131523042del	GRCh38
NC_000009.11:g.134398428_134398429del , CM000671.1:g.134398428_134398429del	GRCh37
NC_000009.10:g.133388249_133388250del	NCBI36
NG_008896.1:g.25140_25141del
NG_008896.2:g.25140_25141del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1951_1952del	ENSP00000343034.7:p.Ser651AlafsTer3
ENST00000404875.7:n.2653_2654del
ENST00000423007.6:c.2170_2171del	ENSP00000404119.2:p.Ser724AlafsTer3
ENST00000677295.2:c.*2457_*2458del	ENSP00000504346.2:n.*2457_*2458del
ENST00000678264.2:c.*2296_*2297del	ENSP00000503157.2:n.*2296_*2297del
ENST00000682070.1:n.2423_2424del
ENST00000682639.1:c.110_111del
ENST00000682813.1:n.2510_2511del
ENST00000683231.1:c.110_111del
ENST00000683392.1:n.4705_4706del
ENST00000683712.1:n.2518_2519del
ENST00000683900.1:n.4013_4014del
ENST00000684062.1:n.2779_2780del
ENST00000684399.1:c.110_111del
ENST00000684579.1:n.3959_3960del
ENST00000341012.12:c.1951_1952del	ENSP00000343034.7:p.Ser651AlafsTer3
ENST00000372220.5:c.982_983del	ENSP00000361294.5:p.Ser328AlafsTer3
ENST00000372228.9:c.2179_2180del	ENSP00000361302.3:p.Ser727AlafsTer3
ENST00000402686.8:c.2113_2114del MANE Select	ENSP00000385797.4:p.Ser705AlafsTer3
ENST00000676640.1:c.2113_2114del	ENSP00000503281.1:p.Ser705AlafsTer3
ENST00000676803.1:c.1174_1175del	ENSP00000503093.1:p.Ser392AlafsTer3
ENST00000676835.1:c.*1328_*1329del	ENSP00000502911.1:n.*1328_*1329del
ENST00000677029.1:c.1657_1658del	ENSP00000502936.1:p.Ser553AlafsTer3
ENST00000677099.1:c.*1823_*1824del	ENSP00000504553.1:n.*1823_*1824del
ENST00000677216.1:c.1762_1763del	ENSP00000503772.1:p.Ser588AlafsTer3
ENST00000677295.1:c.*1335_*1336del	ENSP00000504346.1:n.*1335_*1336del
ENST00000677444.1:c.2058_2059del
ENST00000677586.1:n.1480_1481del
ENST00000677626.1:c.1762_1763del	ENSP00000503552.1:p.Ser588AlafsTer3
ENST00000677853.1:c.*1121_*1122del	ENSP00000503488.1:n.*1121_*1122del
ENST00000678264.1:c.*1490_*1491del	ENSP00000503157.1:n.*1490_*1491del
ENST00000678303.1:c.2023_2024del	ENSP00000503696.1:p.Ser675AlafsTer3
ENST00000678366.1:c.*2362_*2363del	ENSP00000504353.1:n.*2362_*2363del
ENST00000678546.1:c.*2058_*2059del	ENSP00000503062.1:n.*2058_*2059del
ENST00000678548.1:c.*2252_*2253del	ENSP00000503934.1:n.*2252_*2253del
ENST00000678626.1:n.1949_1950del
ENST00000678739.1:c.*2279_*2280del	ENSP00000503806.1:n.*2279_*2280del
ENST00000678833.1:c.*1865_*1866del	ENSP00000503893.1:n.*1865_*1866del
ENST00000679023.1:c.1951_1952del	ENSP00000503718.1:p.Ser651AlafsTer3
ENST00000679076.1:c.1732_1733del
ENST00000679111.1:c.*869_*870del	ENSP00000504257.1:n.*869_*870del
ENST00000679189.1:c.1762_1763del	ENSP00000503356.1:p.Ser588AlafsTer3
ENST00000341012.11:c.1951_1952del	ENSP00000343034.7:p.Ser651AlafsTer3
ENST00000372220.4:c.976_977del	ENSP00000361294.4:p.Ser326AlafsTer3
ENST00000372228.7:c.2179_2180del	ENSP00000361302.3:p.Ser727AlafsTer3
ENST00000402686.7:c.2113_2114del	ENSP00000385797.3:p.Ser705AlafsTer3
ENST00000404875.6:c.1762_1763del	ENSP00000384531.2:p.Ser588AlafsTer3
ENST00000423007.5:c.2113_2114del	ENSP00000404119.1:p.Ser705AlafsTer3
ENST00000485278.5:n.2663_2664del
NM_001077365.1:c.2113_2114del	NP_001070833.1:p.Ser705AlafsTer3
NM_001077366.1:c.1951_1952del	NP_001070834.1:p.Ser651AlafsTer3
NM_001136113.1:c.2113_2114del	NP_001129585.1:p.Ser705AlafsTer3
NM_001136114.1:c.1762_1763del	NP_001129586.1:p.Ser588AlafsTer3
NM_007171.3:c.2179_2180del	NP_009102.3:p.Ser727AlafsTer3
XM_005272156.1:c.2179_2180del	XP_005272213.1:p.Ser727AlafsTer3
XM_005272158.1:c.2017_2018del	XP_005272215.1:p.Ser673AlafsTer3
XM_005272159.1:c.1828_1829del	XP_005272216.1:p.Ser610AlafsTer3
XM_005272162.1:c.982_983del	XP_005272219.1:p.Ser328AlafsTer3
XM_006716932.1:c.1828_1829del	XP_006716995.1:p.Ser610AlafsTer3
XM_011518140.1:c.2032_2033del	XP_011516442.1:p.Ser678AlafsTer3
XM_011518141.1:c.1966_1967del	XP_011516443.1:p.Ser656AlafsTer3
XM_011518142.1:c.1870_1871del	XP_011516444.1:p.Ser624AlafsTer3
XM_011518143.1:c.1864_1865del	XP_011516445.1:p.Ser622AlafsTer3
XM_011518145.1:c.1723_1724del	XP_011516447.1:p.Ser575AlafsTer3
XM_011518147.1:c.1051_1052del	XP_011516449.1:p.Ser351AlafsTer3
XR_929703.1:n.2355_2356del
NM_001353193.1:c.2179_2180del	NP_001340122.1:p.Ser727AlafsTer3
NM_001353194.1:c.1951_1952del	NP_001340123.1:p.Ser651AlafsTer3
NM_001353195.1:c.1762_1763del	NP_001340124.1:p.Ser588AlafsTer3
NM_001353196.1:c.2023_2024del	NP_001340125.1:p.Ser675AlafsTer3
NM_001353197.1:c.2017_2018del	NP_001340126.1:p.Ser673AlafsTer3
NM_001353198.1:c.2017_2018del	NP_001340127.1:p.Ser673AlafsTer3
NM_001353199.1:c.1828_1829del	NP_001340128.1:p.Ser610AlafsTer3
NM_001353200.1:c.1657_1658del	NP_001340129.1:p.Ser553AlafsTer3
NR_148391.1:n.2163_2164del
NR_148392.1:n.2381_2382del
NR_148393.1:n.2302_2303del
NR_148394.1:n.2056_2057del
NR_148395.1:n.2454_2455del
NR_148396.1:n.2088_2089del
NR_148397.1:n.2213_2214del
NR_148398.1:n.2168_2169del
NR_148399.1:n.2694_2695del
NR_148400.1:n.2293_2294del
XM_005272162.3:c.982_983del	XP_005272219.1:p.Ser328AlafsTer3
XM_006716932.2:c.1828_1829del	XP_006716995.1:p.Ser610AlafsTer3
XM_011518140.2:c.2032_2033del	XP_011516442.1:p.Ser678AlafsTer3
XM_011518141.2:c.1966_1967del	XP_011516443.1:p.Ser656AlafsTer3
XM_011518142.2:c.1870_1871del	XP_011516444.1:p.Ser624AlafsTer3
XM_011518143.2:c.1864_1865del	XP_011516445.1:p.Ser622AlafsTer3
XM_011518145.2:c.1723_1724del	XP_011516447.1:p.Ser575AlafsTer3
XM_017014205.2:c.982_983del	XP_016869694.1:p.Ser328AlafsTer3
XM_024447380.1:c.982_983del	XP_024303148.1:p.Ser328AlafsTer3
XM_024447381.1:c.1288_1289del	XP_024303149.1:p.Ser430AlafsTer3
XM_024447382.1:c.982_983del	XP_024303150.1:p.Ser328AlafsTer3
XR_001746160.2:n.2283_2284del
XR_001746162.2:n.2488_2489del
XR_001746164.1:n.2205_2206del
XR_001746166.2:n.2500_2501del
NM_001077365.2:c.2113_2114del MANE Select	NP_001070833.1:p.Ser705AlafsTer3
NM_001077366.2:c.1951_1952del	NP_001070834.1:p.Ser651AlafsTer3
NM_001136113.2:c.2113_2114del	NP_001129585.1:p.Ser705AlafsTer3
NM_001136114.2:c.1762_1763del	NP_001129586.1:p.Ser588AlafsTer3
NM_001353193.2:c.2179_2180del	NP_001340122.2:p.Ser727AlafsTer3
NM_001353194.2:c.1951_1952del	NP_001340123.1:p.Ser651AlafsTer3
NM_001353195.2:c.1762_1763del	NP_001340124.1:p.Ser588AlafsTer3
NM_001353196.2:c.2023_2024del	NP_001340125.1:p.Ser675AlafsTer3
NM_001353197.2:c.2017_2018del	NP_001340126.2:p.Ser673AlafsTer3
NM_001353198.2:c.2017_2018del	NP_001340127.2:p.Ser673AlafsTer3
NM_001353199.2:c.1828_1829del	NP_001340128.2:p.Ser610AlafsTer3
NM_001353200.2:c.1657_1658del	NP_001340129.1:p.Ser553AlafsTer3
NM_001374689.1:c.2101_2102del	NP_001361618.1:p.Ser701AlafsTer3
NM_001374690.1:c.1894_1895del	NP_001361619.1:p.Ser632AlafsTer3
NM_001374691.1:c.1762_1763del	NP_001361620.1:p.Ser588AlafsTer3
NM_001374692.1:c.1762_1763del	NP_001361621.1:p.Ser588AlafsTer3
NM_001374693.1:c.1762_1763del	NP_001361622.1:p.Ser588AlafsTer3
NM_001374695.1:c.1723_1724del	NP_001361624.1:p.Ser575AlafsTer3
NM_007171.4:c.2179_2180del	NP_009102.4:p.Ser727AlafsTer3
NR_148391.2:n.2147_2148del
NR_148392.2:n.2365_2366del
NR_148393.2:n.2286_2287del
NR_148394.2:n.2040_2041del
NR_148395.2:n.2438_2439del
NR_148396.2:n.2072_2073del
NR_148397.2:n.2197_2198del
NR_148398.2:n.2152_2153del
NR_148399.2:n.2678_2679del
NR_148400.2:n.2277_2278del