Canonical Allele Identifier: CA2579545625

Gene: POMT1

Linked Data

• gnomAD v4: 9-131518550-TCCGTGGCTTGGCCTGTCCTGAGCTGTGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518551_131518578del , CM000671.2:g.131518551_131518578del	GRCh38
NC_000009.11:g.134393938_134393965del , CM000671.1:g.134393938_134393965del	GRCh37
NC_000009.10:g.133383759_133383786del	NCBI36
NG_008896.1:g.20650_20677del
NG_008896.2:g.20650_20677del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1203+14_1203+41del	ENSP00000343034.7:n.1203+14_1203+41del
ENST00000404875.7:n.1905+14_1905+41del
ENST00000423007.6:c.1422+14_1422+41del	ENSP00000404119.2:n.1422+14_1422+41del
ENST00000677295.2:c.*1709+14_*1709+41del	ENSP00000504346.2:n.*1709+14_*1709+41del
ENST00000678264.2:c.*1548+14_*1548+41del	ENSP00000503157.2:n.*1548+14_*1548+41del
ENST00000682070.1:n.1830+14_1830+41del
ENST00000682539.1:c.303+14_303+41del
ENST00000682813.1:n.1630+14_1630+41del
ENST00000683110.1:n.93+14_93+41del
ENST00000683392.1:n.4112+14_4112+41del
ENST00000683712.1:n.1770+14_1770+41del
ENST00000683900.1:n.3265+14_3265+41del
ENST00000684062.1:n.2031+14_2031+41del
ENST00000684579.1:n.3211+14_3211+41del
ENST00000684679.1:n.592+14_592+41del
ENST00000341012.12:c.1203+14_1203+41del	ENSP00000343034.7:n.1203+14_1203+41del
ENST00000372220.5:c.234+14_234+41del	ENSP00000361294.5:n.234+14_234+41del
ENST00000372228.9:c.1431+14_1431+41del	ENSP00000361302.3:n.1431+14_1431+41del
ENST00000402686.8:c.1365+14_1365+41del MANE Select	ENSP00000385797.4:n.1365+14_1365+41del
ENST00000676640.1:c.1365+14_1365+41del	ENSP00000503281.1:n.1365+14_1365+41del
ENST00000676803.1:c.540+14_540+41del	ENSP00000503093.1:n.540+14_540+41del
ENST00000676835.1:c.*580+14_*580+41del	ENSP00000502911.1:n.*580+14_*580+41del
ENST00000677029.1:c.909+14_909+41del	ENSP00000502936.1:n.909+14_909+41del
ENST00000677099.1:c.*1075+14_*1075+41del	ENSP00000504553.1:n.*1075+14_*1075+41del
ENST00000677216.1:c.1014+14_1014+41del	ENSP00000503772.1:n.1014+14_1014+41del
ENST00000677221.1:n.390+14_390+41del
ENST00000677295.1:c.*742+14_*742+41del	ENSP00000504346.1:n.*742+14_*742+41del
ENST00000677444.1:c.1171+14_1171+41del
ENST00000677586.1:n.846+14_846+41del
ENST00000677626.1:c.1014+14_1014+41del	ENSP00000503552.1:n.1014+14_1014+41del
ENST00000677677.1:n.1325+14_1325+41del
ENST00000677853.1:c.*373+14_*373+41del	ENSP00000503488.1:n.*373+14_*373+41del
ENST00000677983.1:n.454+14_454+41del
ENST00000678202.1:n.385+14_385+41del
ENST00000678264.1:c.*742+14_*742+41del	ENSP00000503157.1:n.*742+14_*742+41del
ENST00000678303.1:c.1275+14_1275+41del	ENSP00000503696.1:n.1275+14_1275+41del
ENST00000678366.1:c.*1614+14_*1614+41del	ENSP00000504353.1:n.*1614+14_*1614+41del
ENST00000678546.1:c.*1310+14_*1310+41del	ENSP00000503062.1:n.*1310+14_*1310+41del
ENST00000678548.1:c.*1437+14_*1437+41del	ENSP00000503934.1:n.*1437+14_*1437+41del
ENST00000678626.1:n.1062+14_1062+41del
ENST00000678733.1:c.446+14_446+41del
ENST00000678739.1:c.*1691+14_*1691+41del	ENSP00000503806.1:n.*1691+14_*1691+41del
ENST00000678795.1:n.452+14_452+41del
ENST00000678833.1:c.*812+14_*812+41del	ENSP00000503893.1:n.*812+14_*812+41del
ENST00000678942.1:c.545+14_545+41del	ENSP00000504690.1:n.545+14_545+41del
ENST00000679023.1:c.1203+14_1203+41del	ENSP00000503718.1:n.1203+14_1203+41del
ENST00000679076.1:c.984+14_984+41del
ENST00000679111.1:c.1365+14_1365+41del	ENSP00000504257.1:n.1365+14_1365+41del
ENST00000679189.1:c.1014+14_1014+41del	ENSP00000503356.1:n.1014+14_1014+41del
ENST00000341012.11:c.1203+14_1203+41del	ENSP00000343034.7:n.1203+14_1203+41del
ENST00000372220.4:c.228+14_228+41del	ENSP00000361294.4:n.228+14_228+41del
ENST00000372228.7:c.1431+14_1431+41del	ENSP00000361302.3:n.1431+14_1431+41del
ENST00000402686.7:c.1365+14_1365+41del	ENSP00000385797.3:n.1365+14_1365+41del
ENST00000404875.6:c.1014+14_1014+41del	ENSP00000384531.2:n.1014+14_1014+41del
ENST00000423007.5:c.1365+14_1365+41del	ENSP00000404119.1:n.1365+14_1365+41del
ENST00000485278.5:n.1920+14_1920+41del
NM_001077365.1:c.1365+14_1365+41del	NP_001070833.1:n.1365+14_1365+41del
NM_001077366.1:c.1203+14_1203+41del	NP_001070834.1:n.1203+14_1203+41del
NM_001136113.1:c.1365+14_1365+41del	NP_001129585.1:n.1365+14_1365+41del
NM_001136114.1:c.1014+14_1014+41del	NP_001129586.1:n.1014+14_1014+41del
NM_007171.3:c.1431+14_1431+41del	NP_009102.3:n.1431+14_1431+41del
XM_005272156.1:c.1431+14_1431+41del	XP_005272213.1:n.1431+14_1431+41del
XM_005272158.1:c.1269+14_1269+41del	XP_005272215.1:n.1269+14_1269+41del
XM_005272159.1:c.1080+14_1080+41del	XP_005272216.1:n.1080+14_1080+41del
XM_005272162.1:c.234+14_234+41del	XP_005272219.1:n.234+14_234+41del
XM_006716932.1:c.1080+14_1080+41del	XP_006716995.1:n.1080+14_1080+41del
XM_011518140.1:c.1284+14_1284+41del	XP_011516442.1:n.1284+14_1284+41del
XM_011518141.1:c.1218+14_1218+41del	XP_011516443.1:n.1218+14_1218+41del
XM_011518142.1:c.1122+14_1122+41del	XP_011516444.1:n.1122+14_1122+41del
XM_011518143.1:c.1116+14_1116+41del	XP_011516445.1:n.1116+14_1116+41del
XM_011518144.1:c.1431+14_1431+41del	XP_011516446.1:n.1431+14_1431+41del
XM_011518145.1:c.975+14_975+41del	XP_011516447.1:n.975+14_975+41del
XM_011518146.1:c.1116+14_1116+41del	XP_011516448.1:n.1116+14_1116+41del
XM_011518147.1:c.303+14_303+41del	XP_011516449.1:n.303+14_303+41del
XR_929703.1:n.1607+14_1607+41del
NM_001353193.1:c.1431+14_1431+41del	NP_001340122.1:n.1431+14_1431+41del
NM_001353194.1:c.1203+14_1203+41del	NP_001340123.1:n.1203+14_1203+41del
NM_001353195.1:c.1014+14_1014+41del	NP_001340124.1:n.1014+14_1014+41del
NM_001353196.1:c.1275+14_1275+41del	NP_001340125.1:n.1275+14_1275+41del
NM_001353197.1:c.1269+14_1269+41del	NP_001340126.1:n.1269+14_1269+41del
NM_001353198.1:c.1269+14_1269+41del	NP_001340127.1:n.1269+14_1269+41del
NM_001353199.1:c.1080+14_1080+41del	NP_001340128.1:n.1080+14_1080+41del
NM_001353200.1:c.909+14_909+41del	NP_001340129.1:n.909+14_909+41del
NR_148391.1:n.1415+14_1415+41del
NR_148392.1:n.1633+14_1633+41del
NR_148393.1:n.1415+14_1415+41del
NR_148394.1:n.1308+14_1308+41del
NR_148395.1:n.1567+14_1567+41del
NR_148396.1:n.1201+14_1201+41del
NR_148397.1:n.1465+14_1465+41del
NR_148398.1:n.1420+14_1420+41del
NR_148399.1:n.1807+14_1807+41del
NR_148400.1:n.1406+14_1406+41del
XM_005272162.3:c.234+14_234+41del	XP_005272219.1:n.234+14_234+41del
XM_006716932.2:c.1080+14_1080+41del	XP_006716995.1:n.1080+14_1080+41del
XM_011518140.2:c.1284+14_1284+41del	XP_011516442.1:n.1284+14_1284+41del
XM_011518141.2:c.1218+14_1218+41del	XP_011516443.1:n.1218+14_1218+41del
XM_011518142.2:c.1122+14_1122+41del	XP_011516444.1:n.1122+14_1122+41del
XM_011518143.2:c.1116+14_1116+41del	XP_011516445.1:n.1116+14_1116+41del
XM_011518145.2:c.975+14_975+41del	XP_011516447.1:n.975+14_975+41del
XM_017014205.2:c.234+14_234+41del	XP_016869694.1:n.234+14_234+41del
XM_024447380.1:c.234+14_234+41del	XP_024303148.1:n.234+14_234+41del
XM_024447381.1:c.540+14_540+41del	XP_024303149.1:n.540+14_540+41del
XM_024447382.1:c.234+14_234+41del	XP_024303150.1:n.234+14_234+41del
XR_001746160.2:n.1535+14_1535+41del
XR_001746162.2:n.1601+14_1601+41del
XR_001746164.1:n.1318+14_1318+41del
XR_001746166.2:n.1752+14_1752+41del
NM_001077365.2:c.1365+14_1365+41del MANE Select	NP_001070833.1:n.1365+14_1365+41del
NM_001077366.2:c.1203+14_1203+41del	NP_001070834.1:n.1203+14_1203+41del
NM_001136113.2:c.1365+14_1365+41del	NP_001129585.1:n.1365+14_1365+41del
NM_001136114.2:c.1014+14_1014+41del	NP_001129586.1:n.1014+14_1014+41del
NM_001353193.2:c.1431+14_1431+41del	NP_001340122.2:n.1431+14_1431+41del
NM_001353194.2:c.1203+14_1203+41del	NP_001340123.1:n.1203+14_1203+41del
NM_001353195.2:c.1014+14_1014+41del	NP_001340124.1:n.1014+14_1014+41del
NM_001353196.2:c.1275+14_1275+41del	NP_001340125.1:n.1275+14_1275+41del
NM_001353197.2:c.1269+14_1269+41del	NP_001340126.2:n.1269+14_1269+41del
NM_001353198.2:c.1269+14_1269+41del	NP_001340127.2:n.1269+14_1269+41del
NM_001353199.2:c.1080+14_1080+41del	NP_001340128.2:n.1080+14_1080+41del
NM_001353200.2:c.909+14_909+41del	NP_001340129.1:n.909+14_909+41del
NM_001374689.1:c.1353+14_1353+41del	NP_001361618.1:n.1353+14_1353+41del
NM_001374690.1:c.1365+14_1365+41del	NP_001361619.1:n.1365+14_1365+41del
NM_001374691.1:c.1014+14_1014+41del	NP_001361620.1:n.1014+14_1014+41del
NM_001374692.1:c.1014+14_1014+41del	NP_001361621.1:n.1014+14_1014+41del
NM_001374693.1:c.1014+14_1014+41del	NP_001361622.1:n.1014+14_1014+41del
NM_001374695.1:c.975+14_975+41del	NP_001361624.1:n.975+14_975+41del
NM_007171.4:c.1431+14_1431+41del	NP_009102.4:n.1431+14_1431+41del
NR_148391.2:n.1399+14_1399+41del
NR_148392.2:n.1617+14_1617+41del
NR_148393.2:n.1399+14_1399+41del
NR_148394.2:n.1292+14_1292+41del
NR_148395.2:n.1551+14_1551+41del
NR_148396.2:n.1185+14_1185+41del
NR_148397.2:n.1449+14_1449+41del
NR_148398.2:n.1404+14_1404+41del
NR_148399.2:n.1791+14_1791+41del
NR_148400.2:n.1390+14_1390+41del