Canonical Allele Identifier: CA1881751951

Gene: POMT1

Linked Data

• dbSNP Id: rs1949221494

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518526_131518545del , CM000671.2:g.131518526_131518545del	GRCh38
NC_000009.11:g.134393913_134393932del , CM000671.1:g.134393913_134393932del	GRCh37
NC_000009.10:g.133383734_133383753del	NCBI36
NG_008896.1:g.20625_20644del
NG_008896.2:g.20625_20644del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1192_1203+8del
ENST00000404875.7:n.1894_1905+8del
ENST00000423007.6:c.1411_1422+8del
ENST00000677295.2:c.*1698_*1709+8del
ENST00000678264.2:c.*1537_*1548+8del
ENST00000682070.1:n.1819_1830+8del
ENST00000682539.1:c.292_303+8del
ENST00000682813.1:n.1619_1630+8del
ENST00000683110.1:n.82_93+8del
ENST00000683392.1:n.4101_4112+8del
ENST00000683712.1:n.1759_1770+8del
ENST00000683900.1:n.3254_3265+8del
ENST00000684062.1:n.2020_2031+8del
ENST00000684579.1:n.3200_3211+8del
ENST00000684679.1:n.581_592+8del
ENST00000341012.12:c.1192_1203+8del
ENST00000372220.5:c.223_234+8del
ENST00000372228.9:c.1420_1431+8del
ENST00000402686.8:c.1354_1365+8del
ENST00000676640.1:c.1354_1365+8del
ENST00000676803.1:c.529_540+8del
ENST00000676835.1:c.*569_*580+8del
ENST00000677029.1:c.898_909+8del
ENST00000677099.1:c.*1064_*1075+8del
ENST00000677216.1:c.1003_1014+8del
ENST00000677221.1:n.379_390+8del
ENST00000677295.1:c.*731_*742+8del
ENST00000677444.1:c.1160_1171+8del
ENST00000677586.1:n.835_846+8del
ENST00000677626.1:c.1003_1014+8del
ENST00000677677.1:n.1314_1325+8del
ENST00000677853.1:c.*362_*373+8del
ENST00000677983.1:n.443_454+8del
ENST00000678202.1:n.374_385+8del
ENST00000678264.1:c.*731_*742+8del
ENST00000678303.1:c.1264_1275+8del
ENST00000678366.1:c.*1603_*1614+8del
ENST00000678546.1:c.*1299_*1310+8del
ENST00000678548.1:c.*1426_*1437+8del
ENST00000678626.1:n.1051_1062+8del
ENST00000678733.1:c.435_446+8del
ENST00000678739.1:c.*1680_*1691+8del
ENST00000678795.1:n.441_452+8del
ENST00000678833.1:c.*801_*812+8del
ENST00000678942.1:c.534_545+8del
ENST00000679023.1:c.1192_1203+8del
ENST00000679076.1:c.973_984+8del
ENST00000679111.1:c.1354_1365+8del
ENST00000679189.1:c.1003_1014+8del
ENST00000341012.11:c.1192_1203+8del
ENST00000372220.4:c.217_228+8del
ENST00000372228.7:c.1420_1431+8del
ENST00000402686.7:c.1354_1365+8del
ENST00000404875.6:c.1003_1014+8del
ENST00000423007.5:c.1354_1365+8del
ENST00000485278.5:n.1909_1920+8del
NM_001077365.1:c.1354_1365+8del
NM_001077366.1:c.1192_1203+8del
NM_001136113.1:c.1354_1365+8del
NM_001136114.1:c.1003_1014+8del
NM_007171.3:c.1420_1431+8del
XM_005272156.1:c.1420_1431+8del
XM_005272158.1:c.1258_1269+8del
XM_005272159.1:c.1069_1080+8del
XM_005272162.1:c.223_234+8del
XM_006716932.1:c.1069_1080+8del
XM_011518140.1:c.1273_1284+8del
XM_011518141.1:c.1207_1218+8del
XM_011518142.1:c.1111_1122+8del
XM_011518143.1:c.1105_1116+8del
XM_011518144.1:c.1420_1431+8del
XM_011518145.1:c.964_975+8del
XM_011518146.1:c.1105_1116+8del
XM_011518147.1:c.292_303+8del
XR_929703.1:n.1596_1607+8del
NM_001353193.1:c.1420_1431+8del
NM_001353194.1:c.1192_1203+8del
NM_001353195.1:c.1003_1014+8del
NM_001353196.1:c.1264_1275+8del
NM_001353197.1:c.1258_1269+8del
NM_001353198.1:c.1258_1269+8del
NM_001353199.1:c.1069_1080+8del
NM_001353200.1:c.898_909+8del
NR_148391.1:n.1404_1415+8del
NR_148392.1:n.1622_1633+8del
NR_148393.1:n.1404_1415+8del
NR_148394.1:n.1297_1308+8del
NR_148395.1:n.1556_1567+8del
NR_148396.1:n.1190_1201+8del
NR_148397.1:n.1454_1465+8del
NR_148398.1:n.1409_1420+8del
NR_148399.1:n.1796_1807+8del
NR_148400.1:n.1395_1406+8del
XM_005272162.3:c.223_234+8del
XM_006716932.2:c.1069_1080+8del
XM_011518140.2:c.1273_1284+8del
XM_011518141.2:c.1207_1218+8del
XM_011518142.2:c.1111_1122+8del
XM_011518143.2:c.1105_1116+8del
XM_011518145.2:c.964_975+8del
XM_017014205.2:c.223_234+8del
XM_024447380.1:c.223_234+8del
XM_024447381.1:c.529_540+8del
XM_024447382.1:c.223_234+8del
XR_001746160.2:n.1524_1535+8del
XR_001746162.2:n.1590_1601+8del
XR_001746164.1:n.1307_1318+8del
XR_001746166.2:n.1741_1752+8del
NM_001077365.2:c.1354_1365+8del
NM_001077366.2:c.1192_1203+8del
NM_001136113.2:c.1354_1365+8del
NM_001136114.2:c.1003_1014+8del
NM_001353193.2:c.1420_1431+8del
NM_001353194.2:c.1192_1203+8del
NM_001353195.2:c.1003_1014+8del
NM_001353196.2:c.1264_1275+8del
NM_001353197.2:c.1258_1269+8del
NM_001353198.2:c.1258_1269+8del
NM_001353199.2:c.1069_1080+8del
NM_001353200.2:c.898_909+8del
NM_001374689.1:c.1342_1353+8del
NM_001374690.1:c.1354_1365+8del
NM_001374691.1:c.1003_1014+8del
NM_001374692.1:c.1003_1014+8del
NM_001374693.1:c.1003_1014+8del
NM_001374695.1:c.964_975+8del
NM_007171.4:c.1420_1431+8del
NR_148391.2:n.1388_1399+8del
NR_148392.2:n.1606_1617+8del
NR_148393.2:n.1388_1399+8del
NR_148394.2:n.1281_1292+8del
NR_148395.2:n.1540_1551+8del
NR_148396.2:n.1174_1185+8del
NR_148397.2:n.1438_1449+8del
NR_148398.2:n.1393_1404+8del
NR_148399.2:n.1780_1791+8del
NR_148400.2:n.1379_1390+8del