Canonical Allele Identifier: CA2692219395

Gene: POMT1

Linked Data

• gnomAD v4: 9-131521621-ATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521622_131521623del , CM000671.2:g.131521622_131521623del	GRCh38
NC_000009.11:g.134397009_134397010del , CM000671.1:g.134397009_134397010del	GRCh37
NC_000009.10:g.133386830_133386831del	NCBI36
NG_008896.1:g.23721_23722del
NG_008896.2:g.23721_23722del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1663+150_1663+151del	ENSP00000343034.7:n.1663+150_1663+151del
ENST00000404875.7:n.2365+150_2365+151del
ENST00000423007.6:c.1882+150_1882+151del	ENSP00000404119.2:n.1882+150_1882+151del
ENST00000677295.2:c.*2169+150_*2169+151del	ENSP00000504346.2:n.*2169+150_*2169+151del
ENST00000678264.2:c.*2008+150_*2008+151del	ENSP00000503157.2:n.*2008+150_*2008+151del
ENST00000682070.1:n.2290+150_2290+151del
ENST00000682813.1:n.2229+150_2229+151del
ENST00000683392.1:n.4572+150_4572+151del
ENST00000683712.1:n.2230+150_2230+151del
ENST00000683900.1:n.3725+150_3725+151del
ENST00000684062.1:n.2491+150_2491+151del
ENST00000684579.1:n.3671+150_3671+151del
ENST00000684679.1:n.1052+150_1052+151del
ENST00000341012.12:c.1663+150_1663+151del	ENSP00000343034.7:n.1663+150_1663+151del
ENST00000372220.5:c.694+150_694+151del	ENSP00000361294.5:n.694+150_694+151del
ENST00000372228.9:c.1891+150_1891+151del	ENSP00000361302.3:n.1891+150_1891+151del
ENST00000402686.8:c.1825+150_1825+151del MANE Select	ENSP00000385797.4:n.1825+150_1825+151del
ENST00000676640.1:c.1825+150_1825+151del	ENSP00000503281.1:n.1825+150_1825+151del
ENST00000676803.1:c.886+150_886+151del	ENSP00000503093.1:n.886+150_886+151del
ENST00000676835.1:c.*1040+150_*1040+151del	ENSP00000502911.1:n.*1040+150_*1040+151del
ENST00000677029.1:c.1369+150_1369+151del	ENSP00000502936.1:n.1369+150_1369+151del
ENST00000677099.1:c.*1535+150_*1535+151del	ENSP00000504553.1:n.*1535+150_*1535+151del
ENST00000677216.1:c.1474+150_1474+151del	ENSP00000503772.1:n.1474+150_1474+151del
ENST00000677221.1:n.850+150_850+151del
ENST00000677295.1:c.*1202+150_*1202+151del	ENSP00000504346.1:n.*1202+150_*1202+151del
ENST00000677444.1:c.1770+150_1770+151del
ENST00000677586.1:n.1192+150_1192+151del
ENST00000677626.1:c.1474+150_1474+151del	ENSP00000503552.1:n.1474+150_1474+151del
ENST00000677853.1:c.*833+150_*833+151del	ENSP00000503488.1:n.*833+150_*833+151del
ENST00000678202.1:n.984+150_984+151del
ENST00000678264.1:c.*1202+150_*1202+151del	ENSP00000503157.1:n.*1202+150_*1202+151del
ENST00000678303.1:c.1735+150_1735+151del	ENSP00000503696.1:n.1735+150_1735+151del
ENST00000678366.1:c.*2074+150_*2074+151del	ENSP00000504353.1:n.*2074+150_*2074+151del
ENST00000678546.1:c.*1770+150_*1770+151del	ENSP00000503062.1:n.*1770+150_*1770+151del
ENST00000678548.1:c.*1897+150_*1897+151del	ENSP00000503934.1:n.*1897+150_*1897+151del
ENST00000678626.1:n.1661+150_1661+151del
ENST00000678739.1:c.*2146+150_*2146+151del	ENSP00000503806.1:n.*2146+150_*2146+151del
ENST00000678833.1:c.*1577+150_*1577+151del	ENSP00000503893.1:n.*1577+150_*1577+151del
ENST00000679023.1:c.1663+150_1663+151del	ENSP00000503718.1:n.1663+150_1663+151del
ENST00000679076.1:c.1444+150_1444+151del
ENST00000679111.1:c.*581+150_*581+151del	ENSP00000504257.1:n.*581+150_*581+151del
ENST00000679189.1:c.1474+150_1474+151del	ENSP00000503356.1:n.1474+150_1474+151del
ENST00000341012.11:c.1663+150_1663+151del	ENSP00000343034.7:n.1663+150_1663+151del
ENST00000372220.4:c.688+150_688+151del	ENSP00000361294.4:n.688+150_688+151del
ENST00000372228.7:c.1891+150_1891+151del	ENSP00000361302.3:n.1891+150_1891+151del
ENST00000402686.7:c.1825+150_1825+151del	ENSP00000385797.3:n.1825+150_1825+151del
ENST00000404875.6:c.1474+150_1474+151del	ENSP00000384531.2:n.1474+150_1474+151del
ENST00000423007.5:c.1825+150_1825+151del	ENSP00000404119.1:n.1825+150_1825+151del
ENST00000485278.5:n.2375+150_2375+151del
ENST00000494883.1:n.368+150_368+151del
NM_001077365.1:c.1825+150_1825+151del	NP_001070833.1:n.1825+150_1825+151del
NM_001077366.1:c.1663+150_1663+151del	NP_001070834.1:n.1663+150_1663+151del
NM_001136113.1:c.1825+150_1825+151del	NP_001129585.1:n.1825+150_1825+151del
NM_001136114.1:c.1474+150_1474+151del	NP_001129586.1:n.1474+150_1474+151del
NM_007171.3:c.1891+150_1891+151del	NP_009102.3:n.1891+150_1891+151del
XM_005272156.1:c.1891+150_1891+151del	XP_005272213.1:n.1891+150_1891+151del
XM_005272158.1:c.1729+150_1729+151del	XP_005272215.1:n.1729+150_1729+151del
XM_005272159.1:c.1540+150_1540+151del	XP_005272216.1:n.1540+150_1540+151del
XM_005272162.1:c.694+150_694+151del	XP_005272219.1:n.694+150_694+151del
XM_006716932.1:c.1540+150_1540+151del	XP_006716995.1:n.1540+150_1540+151del
XM_011518140.1:c.1744+150_1744+151del	XP_011516442.1:n.1744+150_1744+151del
XM_011518141.1:c.1678+150_1678+151del	XP_011516443.1:n.1678+150_1678+151del
XM_011518142.1:c.1582+150_1582+151del	XP_011516444.1:n.1582+150_1582+151del
XM_011518143.1:c.1576+150_1576+151del	XP_011516445.1:n.1576+150_1576+151del
XM_011518145.1:c.1435+150_1435+151del	XP_011516447.1:n.1435+150_1435+151del
XM_011518147.1:c.763+150_763+151del	XP_011516449.1:n.763+150_763+151del
XR_929703.1:n.2067+150_2067+151del
NM_001353193.1:c.1891+150_1891+151del	NP_001340122.1:n.1891+150_1891+151del
NM_001353194.1:c.1663+150_1663+151del	NP_001340123.1:n.1663+150_1663+151del
NM_001353195.1:c.1474+150_1474+151del	NP_001340124.1:n.1474+150_1474+151del
NM_001353196.1:c.1735+150_1735+151del	NP_001340125.1:n.1735+150_1735+151del
NM_001353197.1:c.1729+150_1729+151del	NP_001340126.1:n.1729+150_1729+151del
NM_001353198.1:c.1729+150_1729+151del	NP_001340127.1:n.1729+150_1729+151del
NM_001353199.1:c.1540+150_1540+151del	NP_001340128.1:n.1540+150_1540+151del
NM_001353200.1:c.1369+150_1369+151del	NP_001340129.1:n.1369+150_1369+151del
NR_148391.1:n.1875+150_1875+151del
NR_148392.1:n.2093+150_2093+151del
NR_148393.1:n.2014+150_2014+151del
NR_148394.1:n.1768+150_1768+151del
NR_148395.1:n.2166+150_2166+151del
NR_148396.1:n.1800+150_1800+151del
NR_148397.1:n.1925+150_1925+151del
NR_148398.1:n.1880+150_1880+151del
NR_148399.1:n.2406+150_2406+151del
NR_148400.1:n.2005+150_2005+151del
XM_005272162.3:c.694+150_694+151del	XP_005272219.1:n.694+150_694+151del
XM_006716932.2:c.1540+150_1540+151del	XP_006716995.1:n.1540+150_1540+151del
XM_011518140.2:c.1744+150_1744+151del	XP_011516442.1:n.1744+150_1744+151del
XM_011518141.2:c.1678+150_1678+151del	XP_011516443.1:n.1678+150_1678+151del
XM_011518142.2:c.1582+150_1582+151del	XP_011516444.1:n.1582+150_1582+151del
XM_011518143.2:c.1576+150_1576+151del	XP_011516445.1:n.1576+150_1576+151del
XM_011518145.2:c.1435+150_1435+151del	XP_011516447.1:n.1435+150_1435+151del
XM_017014205.2:c.694+150_694+151del	XP_016869694.1:n.694+150_694+151del
XM_024447380.1:c.694+150_694+151del	XP_024303148.1:n.694+150_694+151del
XM_024447381.1:c.1000+150_1000+151del	XP_024303149.1:n.1000+150_1000+151del
XM_024447382.1:c.694+150_694+151del	XP_024303150.1:n.694+150_694+151del
XR_001746160.2:n.1995+150_1995+151del
XR_001746162.2:n.2200+150_2200+151del
XR_001746164.1:n.1917+150_1917+151del
XR_001746166.2:n.2212+150_2212+151del
NM_001077365.2:c.1825+150_1825+151del MANE Select	NP_001070833.1:n.1825+150_1825+151del
NM_001077366.2:c.1663+150_1663+151del	NP_001070834.1:n.1663+150_1663+151del
NM_001136113.2:c.1825+150_1825+151del	NP_001129585.1:n.1825+150_1825+151del
NM_001136114.2:c.1474+150_1474+151del	NP_001129586.1:n.1474+150_1474+151del
NM_001353193.2:c.1891+150_1891+151del	NP_001340122.2:n.1891+150_1891+151del
NM_001353194.2:c.1663+150_1663+151del	NP_001340123.1:n.1663+150_1663+151del
NM_001353195.2:c.1474+150_1474+151del	NP_001340124.1:n.1474+150_1474+151del
NM_001353196.2:c.1735+150_1735+151del	NP_001340125.1:n.1735+150_1735+151del
NM_001353197.2:c.1729+150_1729+151del	NP_001340126.2:n.1729+150_1729+151del
NM_001353198.2:c.1729+150_1729+151del	NP_001340127.2:n.1729+150_1729+151del
NM_001353199.2:c.1540+150_1540+151del	NP_001340128.2:n.1540+150_1540+151del
NM_001353200.2:c.1369+150_1369+151del	NP_001340129.1:n.1369+150_1369+151del
NM_001374689.1:c.1813+150_1813+151del	NP_001361618.1:n.1813+150_1813+151del
NM_001374690.1:c.1606+150_1606+151del	NP_001361619.1:n.1606+150_1606+151del
NM_001374691.1:c.1474+150_1474+151del	NP_001361620.1:n.1474+150_1474+151del
NM_001374692.1:c.1474+150_1474+151del	NP_001361621.1:n.1474+150_1474+151del
NM_001374693.1:c.1474+150_1474+151del	NP_001361622.1:n.1474+150_1474+151del
NM_001374695.1:c.1435+150_1435+151del	NP_001361624.1:n.1435+150_1435+151del
NM_007171.4:c.1891+150_1891+151del	NP_009102.4:n.1891+150_1891+151del
NR_148391.2:n.1859+150_1859+151del
NR_148392.2:n.2077+150_2077+151del
NR_148393.2:n.1998+150_1998+151del
NR_148394.2:n.1752+150_1752+151del
NR_148395.2:n.2150+150_2150+151del
NR_148396.2:n.1784+150_1784+151del
NR_148397.2:n.1909+150_1909+151del
NR_148398.2:n.1864+150_1864+151del
NR_148399.2:n.2390+150_2390+151del
NR_148400.2:n.1989+150_1989+151del