Canonical Allele Identifier: CA1129603001

Gene: POMT1

Linked Data

• ClinVar Variation Id: 2062446
• ClinVar RCV Id: RCV002957729
• dbSNP Id: rs1950284130
• gnomAD v3: 9-131523039-TCTCGCCA-T
• gnomAD v4: 9-131523039-TCTCGCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523041_131523047del , CM000671.2:g.131523041_131523047del	GRCh38
NC_000009.11:g.134398428_134398434del , CM000671.1:g.134398428_134398434del	GRCh37
NC_000009.10:g.133388249_133388255del	NCBI36
NG_008896.1:g.25140_25146del
NG_008896.2:g.25140_25146del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1951_1957del	ENSP00000343034.7:p.Ser651MetfsTer15
ENST00000404875.7:n.2653_2659del
ENST00000423007.6:c.2170_2176del	ENSP00000404119.2:p.Ser724MetfsTer15
ENST00000677295.2:c.*2457_*2463del	ENSP00000504346.2:n.*2457_*2463del
ENST00000678264.2:c.*2296_*2302del	ENSP00000503157.2:n.*2296_*2302del
ENST00000682070.1:n.2423_2429del
ENST00000682639.1:c.110_116del
ENST00000682813.1:n.2510_2516del
ENST00000683231.1:c.110_116del
ENST00000683392.1:n.4705_4711del
ENST00000683712.1:n.2518_2524del
ENST00000683900.1:n.4013_4019del
ENST00000684062.1:n.2779_2785del
ENST00000684399.1:c.110_116del
ENST00000684579.1:n.3959_3965del
ENST00000341012.12:c.1951_1957del	ENSP00000343034.7:p.Ser651MetfsTer15
ENST00000372220.5:c.982_988del	ENSP00000361294.5:p.Ser328MetfsTer15
ENST00000372228.9:c.2179_2185del	ENSP00000361302.3:p.Ser727MetfsTer15
ENST00000402686.8:c.2113_2119del MANE Select	ENSP00000385797.4:p.Ser705MetfsTer15
ENST00000676640.1:c.2113_2119del	ENSP00000503281.1:p.Ser705MetfsTer15
ENST00000676803.1:c.1174_1180del	ENSP00000503093.1:p.Ser392MetfsTer15
ENST00000676835.1:c.*1328_*1334del	ENSP00000502911.1:n.*1328_*1334del
ENST00000677029.1:c.1657_1663del	ENSP00000502936.1:p.Ser553MetfsTer15
ENST00000677099.1:c.*1823_*1829del	ENSP00000504553.1:n.*1823_*1829del
ENST00000677216.1:c.1762_1768del	ENSP00000503772.1:p.Ser588MetfsTer15
ENST00000677295.1:c.*1335_*1341del	ENSP00000504346.1:n.*1335_*1341del
ENST00000677444.1:c.2058_2064del
ENST00000677586.1:n.1480_1486del
ENST00000677626.1:c.1762_1768del	ENSP00000503552.1:p.Ser588MetfsTer15
ENST00000677853.1:c.*1121_*1127del	ENSP00000503488.1:n.*1121_*1127del
ENST00000678264.1:c.*1490_*1496del	ENSP00000503157.1:n.*1490_*1496del
ENST00000678303.1:c.2023_2029del	ENSP00000503696.1:p.Ser675MetfsTer15
ENST00000678366.1:c.*2362_*2368del	ENSP00000504353.1:n.*2362_*2368del
ENST00000678546.1:c.*2058_*2064del	ENSP00000503062.1:n.*2058_*2064del
ENST00000678548.1:c.*2252_*2258del	ENSP00000503934.1:n.*2252_*2258del
ENST00000678626.1:n.1949_1955del
ENST00000678739.1:c.*2279_*2285del	ENSP00000503806.1:n.*2279_*2285del
ENST00000678833.1:c.*1865_*1871del	ENSP00000503893.1:n.*1865_*1871del
ENST00000679023.1:c.1951_1957del	ENSP00000503718.1:p.Ser651MetfsTer15
ENST00000679076.1:c.1732_1738del
ENST00000679111.1:c.*869_*875del	ENSP00000504257.1:n.*869_*875del
ENST00000679189.1:c.1762_1768del	ENSP00000503356.1:p.Ser588MetfsTer15
ENST00000341012.11:c.1951_1957del	ENSP00000343034.7:p.Ser651MetfsTer15
ENST00000372220.4:c.976_982del	ENSP00000361294.4:p.Ser326MetfsTer15
ENST00000372228.7:c.2179_2185del	ENSP00000361302.3:p.Ser727MetfsTer15
ENST00000402686.7:c.2113_2119del	ENSP00000385797.3:p.Ser705MetfsTer15
ENST00000404875.6:c.1762_1768del	ENSP00000384531.2:p.Ser588MetfsTer15
ENST00000423007.5:c.2113_2119del	ENSP00000404119.1:p.Ser705MetfsTer15
ENST00000485278.5:n.2663_2669del
NM_001077365.1:c.2113_2119del	NP_001070833.1:p.Ser705MetfsTer15
NM_001077366.1:c.1951_1957del	NP_001070834.1:p.Ser651MetfsTer15
NM_001136113.1:c.2113_2119del	NP_001129585.1:p.Ser705MetfsTer15
NM_001136114.1:c.1762_1768del	NP_001129586.1:p.Ser588MetfsTer15
NM_007171.3:c.2179_2185del	NP_009102.3:p.Ser727MetfsTer15
XM_005272156.1:c.2179_2185del	XP_005272213.1:p.Ser727MetfsTer15
XM_005272158.1:c.2017_2023del	XP_005272215.1:p.Ser673MetfsTer15
XM_005272159.1:c.1828_1834del	XP_005272216.1:p.Ser610MetfsTer15
XM_005272162.1:c.982_988del	XP_005272219.1:p.Ser328MetfsTer15
XM_006716932.1:c.1828_1834del	XP_006716995.1:p.Ser610MetfsTer15
XM_011518140.1:c.2032_2038del	XP_011516442.1:p.Ser678MetfsTer15
XM_011518141.1:c.1966_1972del	XP_011516443.1:p.Ser656MetfsTer15
XM_011518142.1:c.1870_1876del	XP_011516444.1:p.Ser624MetfsTer15
XM_011518143.1:c.1864_1870del	XP_011516445.1:p.Ser622MetfsTer15
XM_011518145.1:c.1723_1729del	XP_011516447.1:p.Ser575MetfsTer15
XM_011518147.1:c.1051_1057del	XP_011516449.1:p.Ser351MetfsTer15
XR_929703.1:n.2355_2361del
NM_001353193.1:c.2179_2185del	NP_001340122.1:p.Ser727MetfsTer15
NM_001353194.1:c.1951_1957del	NP_001340123.1:p.Ser651MetfsTer15
NM_001353195.1:c.1762_1768del	NP_001340124.1:p.Ser588MetfsTer15
NM_001353196.1:c.2023_2029del	NP_001340125.1:p.Ser675MetfsTer15
NM_001353197.1:c.2017_2023del	NP_001340126.1:p.Ser673MetfsTer15
NM_001353198.1:c.2017_2023del	NP_001340127.1:p.Ser673MetfsTer15
NM_001353199.1:c.1828_1834del	NP_001340128.1:p.Ser610MetfsTer15
NM_001353200.1:c.1657_1663del	NP_001340129.1:p.Ser553MetfsTer15
NR_148391.1:n.2163_2169del
NR_148392.1:n.2381_2387del
NR_148393.1:n.2302_2308del
NR_148394.1:n.2056_2062del
NR_148395.1:n.2454_2460del
NR_148396.1:n.2088_2094del
NR_148397.1:n.2213_2219del
NR_148398.1:n.2168_2174del
NR_148399.1:n.2694_2700del
NR_148400.1:n.2293_2299del
XM_005272162.3:c.982_988del	XP_005272219.1:p.Ser328MetfsTer15
XM_006716932.2:c.1828_1834del	XP_006716995.1:p.Ser610MetfsTer15
XM_011518140.2:c.2032_2038del	XP_011516442.1:p.Ser678MetfsTer15
XM_011518141.2:c.1966_1972del	XP_011516443.1:p.Ser656MetfsTer15
XM_011518142.2:c.1870_1876del	XP_011516444.1:p.Ser624MetfsTer15
XM_011518143.2:c.1864_1870del	XP_011516445.1:p.Ser622MetfsTer15
XM_011518145.2:c.1723_1729del	XP_011516447.1:p.Ser575MetfsTer15
XM_017014205.2:c.982_988del	XP_016869694.1:p.Ser328MetfsTer15
XM_024447380.1:c.982_988del	XP_024303148.1:p.Ser328MetfsTer15
XM_024447381.1:c.1288_1294del	XP_024303149.1:p.Ser430MetfsTer15
XM_024447382.1:c.982_988del	XP_024303150.1:p.Ser328MetfsTer15
XR_001746160.2:n.2283_2289del
XR_001746162.2:n.2488_2494del
XR_001746164.1:n.2205_2211del
XR_001746166.2:n.2500_2506del
NM_001077365.2:c.2113_2119del MANE Select	NP_001070833.1:p.Ser705MetfsTer15
NM_001077366.2:c.1951_1957del	NP_001070834.1:p.Ser651MetfsTer15
NM_001136113.2:c.2113_2119del	NP_001129585.1:p.Ser705MetfsTer15
NM_001136114.2:c.1762_1768del	NP_001129586.1:p.Ser588MetfsTer15
NM_001353193.2:c.2179_2185del	NP_001340122.2:p.Ser727MetfsTer15
NM_001353194.2:c.1951_1957del	NP_001340123.1:p.Ser651MetfsTer15
NM_001353195.2:c.1762_1768del	NP_001340124.1:p.Ser588MetfsTer15
NM_001353196.2:c.2023_2029del	NP_001340125.1:p.Ser675MetfsTer15
NM_001353197.2:c.2017_2023del	NP_001340126.2:p.Ser673MetfsTer15
NM_001353198.2:c.2017_2023del	NP_001340127.2:p.Ser673MetfsTer15
NM_001353199.2:c.1828_1834del	NP_001340128.2:p.Ser610MetfsTer15
NM_001353200.2:c.1657_1663del	NP_001340129.1:p.Ser553MetfsTer15
NM_001374689.1:c.2101_2107del	NP_001361618.1:p.Ser701MetfsTer15
NM_001374690.1:c.1894_1900del	NP_001361619.1:p.Ser632MetfsTer15
NM_001374691.1:c.1762_1768del	NP_001361620.1:p.Ser588MetfsTer15
NM_001374692.1:c.1762_1768del	NP_001361621.1:p.Ser588MetfsTer15
NM_001374693.1:c.1762_1768del	NP_001361622.1:p.Ser588MetfsTer15
NM_001374695.1:c.1723_1729del	NP_001361624.1:p.Ser575MetfsTer15
NM_007171.4:c.2179_2185del	NP_009102.4:p.Ser727MetfsTer15
NR_148391.2:n.2147_2153del
NR_148392.2:n.2365_2371del
NR_148393.2:n.2286_2292del
NR_148394.2:n.2040_2046del
NR_148395.2:n.2438_2444del
NR_148396.2:n.2072_2078del
NR_148397.2:n.2197_2203del
NR_148398.2:n.2152_2158del
NR_148399.2:n.2678_2684del
NR_148400.2:n.2277_2283del