Canonical Allele Identifier: CA1129602568

Gene: POMT1

Linked Data

• gnomAD v3: 9-131522047-ATGCCTGGCT-A
• gnomAD v4: 9-131522047-ATGCCTGGCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522048_131522056del , CM000671.2:g.131522048_131522056del	GRCh38
NC_000009.11:g.134397435_134397443del , CM000671.1:g.134397435_134397443del	GRCh37
NC_000009.10:g.133387256_133387264del	NCBI36
NG_008896.1:g.24147_24155del
NG_008896.2:g.24147_24155del

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1665_1673del	ENSP00000343034.7:p.Asp555_Leu558delinsGl...
ENST00000404875.7:n.2367_2375del
ENST00000423007.6:c.1884_1892del	ENSP00000404119.2:p.Asp628_Leu631delinsGl...
ENST00000677295.2:c.*2171_*2179del	ENSP00000504346.2:n.*2171_*2179del
ENST00000678264.2:c.*2010_*2018del	ENSP00000503157.2:n.*2010_*2018del
ENST00000682070.1:n.2291-154_2291-146del
ENST00000682813.1:n.2231_2239del
ENST00000683392.1:n.4573-154_4573-146del
ENST00000683712.1:n.2232_2240del
ENST00000683900.1:n.3727_3735del
ENST00000684062.1:n.2493_2501del
ENST00000684579.1:n.3673_3681del
ENST00000684679.1:n.1054_1062del
ENST00000341012.12:c.1665_1673del	ENSP00000343034.7:p.Asp555_Leu558delinsGl...
ENST00000372220.5:c.696_704del	ENSP00000361294.5:p.Asp232_Leu235delinsGl...
ENST00000372228.9:c.1893_1901del	ENSP00000361302.3:p.Asp631_Leu634delinsGl...
ENST00000402686.8:c.1827_1835del MANE Select	ENSP00000385797.4:p.Asp609_Leu612delinsGl...
ENST00000676640.1:c.1827_1835del	ENSP00000503281.1:p.Asp609_Leu612delinsGl...
ENST00000676803.1:c.888_896del	ENSP00000503093.1:p.Asp296_Leu299delinsGl...
ENST00000676835.1:c.*1042_*1050del	ENSP00000502911.1:n.*1042_*1050del
ENST00000677029.1:c.1371_1379del	ENSP00000502936.1:p.Asp457_Leu460delinsGl...
ENST00000677099.1:c.*1537_*1545del	ENSP00000504553.1:n.*1537_*1545del
ENST00000677216.1:c.1476_1484del	ENSP00000503772.1:p.Asp492_Leu495delinsGl...
ENST00000677221.1:n.852_860del
ENST00000677295.1:c.*1203-154_*1203-146del	ENSP00000504346.1:n.*1203-154_*1203-146de...
ENST00000677444.1:c.1772_1780del
ENST00000677586.1:n.1194_1202del
ENST00000677626.1:c.1476_1484del	ENSP00000503552.1:p.Asp492_Leu495delinsGl...
ENST00000677853.1:c.*835_*843del	ENSP00000503488.1:n.*835_*843del
ENST00000678202.1:n.986_994del
ENST00000678264.1:c.*1204_*1212del	ENSP00000503157.1:n.*1204_*1212del
ENST00000678303.1:c.1737_1745del	ENSP00000503696.1:p.Asp579_Leu582delinsGl...
ENST00000678366.1:c.*2076_*2084del	ENSP00000504353.1:n.*2076_*2084del
ENST00000678546.1:c.*1772_*1780del	ENSP00000503062.1:n.*1772_*1780del
ENST00000678548.1:c.*1966_*1974del	ENSP00000503934.1:n.*1966_*1974del
ENST00000678626.1:n.1663_1671del
ENST00000678739.1:c.*2147-154_*2147-146del	ENSP00000503806.1:n.*2147-154_*2147-146de...
ENST00000678833.1:c.*1579_*1587del	ENSP00000503893.1:n.*1579_*1587del
ENST00000679023.1:c.1665_1673del	ENSP00000503718.1:p.Asp555_Leu558delinsGl...
ENST00000679076.1:c.1446_1454del
ENST00000679111.1:c.*583_*591del	ENSP00000504257.1:n.*583_*591del
ENST00000679189.1:c.1476_1484del	ENSP00000503356.1:p.Asp492_Leu495delinsGl...
ENST00000341012.11:c.1665_1673del	ENSP00000343034.7:p.Asp555_Leu558delinsGl...
ENST00000372220.4:c.690_698del	ENSP00000361294.4:p.Asp230_Leu233delinsGl...
ENST00000372228.7:c.1893_1901del	ENSP00000361302.3:p.Asp631_Leu634delinsGl...
ENST00000402686.7:c.1827_1835del	ENSP00000385797.3:p.Asp609_Leu612delinsGl...
ENST00000404875.6:c.1476_1484del	ENSP00000384531.2:p.Asp492_Leu495delinsGl...
ENST00000423007.5:c.1827_1835del	ENSP00000404119.1:p.Asp609_Leu612delinsGl...
ENST00000485278.5:n.2377_2385del
ENST00000494883.1:n.370_378del
NM_001077365.1:c.1827_1835del	NP_001070833.1:p.Asp609_Leu612delinsGlu
NM_001077366.1:c.1665_1673del	NP_001070834.1:p.Asp555_Leu558delinsGlu
NM_001136113.1:c.1827_1835del	NP_001129585.1:p.Asp609_Leu612delinsGlu
NM_001136114.1:c.1476_1484del	NP_001129586.1:p.Asp492_Leu495delinsGlu
NM_007171.3:c.1893_1901del	NP_009102.3:p.Asp631_Leu634delinsGlu
XM_005272156.1:c.1893_1901del	XP_005272213.1:p.Asp631_Leu634delinsGlu
XM_005272158.1:c.1731_1739del	XP_005272215.1:p.Asp577_Leu580delinsGlu
XM_005272159.1:c.1542_1550del	XP_005272216.1:p.Asp514_Leu517delinsGlu
XM_005272162.1:c.696_704del	XP_005272219.1:p.Asp232_Leu235delinsGlu
XM_006716932.1:c.1542_1550del	XP_006716995.1:p.Asp514_Leu517delinsGlu
XM_011518140.1:c.1746_1754del	XP_011516442.1:p.Asp582_Leu585delinsGlu
XM_011518141.1:c.1680_1688del	XP_011516443.1:p.Asp560_Leu563delinsGlu
XM_011518142.1:c.1584_1592del	XP_011516444.1:p.Asp528_Leu531delinsGlu
XM_011518143.1:c.1578_1586del	XP_011516445.1:p.Asp526_Leu529delinsGlu
XM_011518145.1:c.1437_1445del	XP_011516447.1:p.Asp479_Leu482delinsGlu
XM_011518147.1:c.765_773del	XP_011516449.1:p.Asp255_Leu258delinsGlu
XR_929703.1:n.2069_2077del
NM_001353193.1:c.1893_1901del	NP_001340122.1:p.Asp631_Leu634delinsGlu
NM_001353194.1:c.1665_1673del	NP_001340123.1:p.Asp555_Leu558delinsGlu
NM_001353195.1:c.1476_1484del	NP_001340124.1:p.Asp492_Leu495delinsGlu
NM_001353196.1:c.1737_1745del	NP_001340125.1:p.Asp579_Leu582delinsGlu
NM_001353197.1:c.1731_1739del	NP_001340126.1:p.Asp577_Leu580delinsGlu
NM_001353198.1:c.1731_1739del	NP_001340127.1:p.Asp577_Leu580delinsGlu
NM_001353199.1:c.1542_1550del	NP_001340128.1:p.Asp514_Leu517delinsGlu
NM_001353200.1:c.1371_1379del	NP_001340129.1:p.Asp457_Leu460delinsGlu
NR_148391.1:n.1877_1885del
NR_148392.1:n.2095_2103del
NR_148393.1:n.2016_2024del
NR_148394.1:n.1770_1778del
NR_148395.1:n.2168_2176del
NR_148396.1:n.1802_1810del
NR_148397.1:n.1927_1935del
NR_148398.1:n.1882_1890del
NR_148399.1:n.2408_2416del
NR_148400.1:n.2007_2015del
XM_005272162.3:c.696_704del	XP_005272219.1:p.Asp232_Leu235delinsGlu
XM_006716932.2:c.1542_1550del	XP_006716995.1:p.Asp514_Leu517delinsGlu
XM_011518140.2:c.1746_1754del	XP_011516442.1:p.Asp582_Leu585delinsGlu
XM_011518141.2:c.1680_1688del	XP_011516443.1:p.Asp560_Leu563delinsGlu
XM_011518142.2:c.1584_1592del	XP_011516444.1:p.Asp528_Leu531delinsGlu
XM_011518143.2:c.1578_1586del	XP_011516445.1:p.Asp526_Leu529delinsGlu
XM_011518145.2:c.1437_1445del	XP_011516447.1:p.Asp479_Leu482delinsGlu
XM_017014205.2:c.696_704del	XP_016869694.1:p.Asp232_Leu235delinsGlu
XM_024447380.1:c.696_704del	XP_024303148.1:p.Asp232_Leu235delinsGlu
XM_024447381.1:c.1002_1010del	XP_024303149.1:p.Asp334_Leu337delinsGlu
XM_024447382.1:c.696_704del	XP_024303150.1:p.Asp232_Leu235delinsGlu
XR_001746160.2:n.1997_2005del
XR_001746162.2:n.2202_2210del
XR_001746164.1:n.1919_1927del
XR_001746166.2:n.2214_2222del
NM_001077365.2:c.1827_1835del MANE Select	NP_001070833.1:p.Asp609_Leu612delinsGlu
NM_001077366.2:c.1665_1673del	NP_001070834.1:p.Asp555_Leu558delinsGlu
NM_001136113.2:c.1827_1835del	NP_001129585.1:p.Asp609_Leu612delinsGlu
NM_001136114.2:c.1476_1484del	NP_001129586.1:p.Asp492_Leu495delinsGlu
NM_001353193.2:c.1893_1901del	NP_001340122.2:p.Asp631_Leu634delinsGlu
NM_001353194.2:c.1665_1673del	NP_001340123.1:p.Asp555_Leu558delinsGlu
NM_001353195.2:c.1476_1484del	NP_001340124.1:p.Asp492_Leu495delinsGlu
NM_001353196.2:c.1737_1745del	NP_001340125.1:p.Asp579_Leu582delinsGlu
NM_001353197.2:c.1731_1739del	NP_001340126.2:p.Asp577_Leu580delinsGlu
NM_001353198.2:c.1731_1739del	NP_001340127.2:p.Asp577_Leu580delinsGlu
NM_001353199.2:c.1542_1550del	NP_001340128.2:p.Asp514_Leu517delinsGlu
NM_001353200.2:c.1371_1379del	NP_001340129.1:p.Asp457_Leu460delinsGlu
NM_001374689.1:c.1815_1823del	NP_001361618.1:p.Asp605_Leu608delinsGlu
NM_001374690.1:c.1608_1616del	NP_001361619.1:p.Asp536_Leu539delinsGlu
NM_001374691.1:c.1476_1484del	NP_001361620.1:p.Asp492_Leu495delinsGlu
NM_001374692.1:c.1476_1484del	NP_001361621.1:p.Asp492_Leu495delinsGlu
NM_001374693.1:c.1476_1484del	NP_001361622.1:p.Asp492_Leu495delinsGlu
NM_001374695.1:c.1437_1445del	NP_001361624.1:p.Asp479_Leu482delinsGlu
NM_007171.4:c.1893_1901del	NP_009102.4:p.Asp631_Leu634delinsGlu
NR_148391.2:n.1861_1869del
NR_148392.2:n.2079_2087del
NR_148393.2:n.2000_2008del
NR_148394.2:n.1754_1762del
NR_148395.2:n.2152_2160del
NR_148396.2:n.1786_1794del
NR_148397.2:n.1911_1919del
NR_148398.2:n.1866_1874del
NR_148399.2:n.2392_2400del
NR_148400.2:n.1991_1999del