Canonical Allele Identifier: CA375311620

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.131518584_131518585del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518584_131518585del , CM000671.2:g.131518584_131518585del	GRCh38
NC_000009.11:g.134393971_134393972del , CM000671.1:g.134393971_134393972del	GRCh37
NC_000009.10:g.133383792_133383793del	NCBI36
NG_008896.1:g.20683_20684del
NG_008896.2:g.20683_20684del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1203+47_1203+48del	ENSP00000343034.7:n.1203+47_1203+48del
ENST00000404875.7:n.1905+47_1905+48del
ENST00000423007.6:c.1422+47_1422+48del	ENSP00000404119.2:n.1422+47_1422+48del
ENST00000677295.2:c.*1709+47_*1709+48del	ENSP00000504346.2:n.*1709+47_*1709+48del
ENST00000678264.2:c.*1548+47_*1548+48del	ENSP00000503157.2:n.*1548+47_*1548+48del
ENST00000682070.1:n.1830+47_1830+48del
ENST00000682539.1:c.303+47_303+48del
ENST00000682813.1:n.1630+47_1630+48del
ENST00000683110.1:n.93+47_93+48del
ENST00000683392.1:n.4112+47_4112+48del
ENST00000683712.1:n.1770+47_1770+48del
ENST00000683900.1:n.3265+47_3265+48del
ENST00000684062.1:n.2031+47_2031+48del
ENST00000684579.1:n.3211+47_3211+48del
ENST00000684679.1:n.592+47_592+48del
ENST00000341012.12:c.1203+47_1203+48del	ENSP00000343034.7:n.1203+47_1203+48del
ENST00000372220.5:c.234+47_234+48del	ENSP00000361294.5:n.234+47_234+48del
ENST00000372228.9:c.1431+47_1431+48del	ENSP00000361302.3:n.1431+47_1431+48del
ENST00000402686.8:c.1365+47_1365+48del MANE Select	ENSP00000385797.4:n.1365+47_1365+48del
ENST00000676640.1:c.1365+47_1365+48del	ENSP00000503281.1:n.1365+47_1365+48del
ENST00000676803.1:c.540+47_540+48del	ENSP00000503093.1:n.540+47_540+48del
ENST00000676835.1:c.*580+47_*580+48del	ENSP00000502911.1:n.*580+47_*580+48del
ENST00000677029.1:c.909+47_909+48del	ENSP00000502936.1:n.909+47_909+48del
ENST00000677099.1:c.*1075+47_*1075+48del	ENSP00000504553.1:n.*1075+47_*1075+48del
ENST00000677216.1:c.1014+47_1014+48del	ENSP00000503772.1:n.1014+47_1014+48del
ENST00000677221.1:n.390+47_390+48del
ENST00000677295.1:c.*742+47_*742+48del	ENSP00000504346.1:n.*742+47_*742+48del
ENST00000677444.1:c.1171+47_1171+48del
ENST00000677586.1:n.846+47_846+48del
ENST00000677626.1:c.1014+47_1014+48del	ENSP00000503552.1:n.1014+47_1014+48del
ENST00000677677.1:n.1325+47_1325+48del
ENST00000677853.1:c.*373+47_*373+48del	ENSP00000503488.1:n.*373+47_*373+48del
ENST00000677983.1:n.454+47_454+48del
ENST00000678202.1:n.385+47_385+48del
ENST00000678264.1:c.*742+47_*742+48del	ENSP00000503157.1:n.*742+47_*742+48del
ENST00000678303.1:c.1275+47_1275+48del	ENSP00000503696.1:n.1275+47_1275+48del
ENST00000678366.1:c.*1614+47_*1614+48del	ENSP00000504353.1:n.*1614+47_*1614+48del
ENST00000678546.1:c.*1310+47_*1310+48del	ENSP00000503062.1:n.*1310+47_*1310+48del
ENST00000678548.1:c.*1437+47_*1437+48del	ENSP00000503934.1:n.*1437+47_*1437+48del
ENST00000678626.1:n.1062+47_1062+48del
ENST00000678733.1:c.446+47_446+48del
ENST00000678739.1:c.*1691+47_*1691+48del	ENSP00000503806.1:n.*1691+47_*1691+48del
ENST00000678795.1:n.452+47_452+48del
ENST00000678833.1:c.*812+47_*812+48del	ENSP00000503893.1:n.*812+47_*812+48del
ENST00000678942.1:c.545+47_545+48del	ENSP00000504690.1:n.545+47_545+48del
ENST00000679023.1:c.1203+47_1203+48del	ENSP00000503718.1:n.1203+47_1203+48del
ENST00000679076.1:c.984+47_984+48del
ENST00000679111.1:c.1365+47_1365+48del	ENSP00000504257.1:n.1365+47_1365+48del
ENST00000679189.1:c.1014+47_1014+48del	ENSP00000503356.1:n.1014+47_1014+48del
ENST00000341012.11:c.1203+47_1203+48del	ENSP00000343034.7:n.1203+47_1203+48del
ENST00000372220.4:c.228+47_228+48del	ENSP00000361294.4:n.228+47_228+48del
ENST00000372228.7:c.1431+47_1431+48del	ENSP00000361302.3:n.1431+47_1431+48del
ENST00000402686.7:c.1365+47_1365+48del	ENSP00000385797.3:n.1365+47_1365+48del
ENST00000404875.6:c.1014+47_1014+48del	ENSP00000384531.2:n.1014+47_1014+48del
ENST00000423007.5:c.1365+47_1365+48del	ENSP00000404119.1:n.1365+47_1365+48del
ENST00000485278.5:n.1920+47_1920+48del
NM_001077365.1:c.1365+47_1365+48del	NP_001070833.1:n.1365+47_1365+48del
NM_001077366.1:c.1203+47_1203+48del	NP_001070834.1:n.1203+47_1203+48del
NM_001136113.1:c.1365+47_1365+48del	NP_001129585.1:n.1365+47_1365+48del
NM_001136114.1:c.1014+47_1014+48del	NP_001129586.1:n.1014+47_1014+48del
NM_007171.3:c.1431+47_1431+48del	NP_009102.3:n.1431+47_1431+48del
XM_005272156.1:c.1431+47_1431+48del	XP_005272213.1:n.1431+47_1431+48del
XM_005272158.1:c.1269+47_1269+48del	XP_005272215.1:n.1269+47_1269+48del
XM_005272159.1:c.1080+47_1080+48del	XP_005272216.1:n.1080+47_1080+48del
XM_005272162.1:c.234+47_234+48del	XP_005272219.1:n.234+47_234+48del
XM_006716932.1:c.1080+47_1080+48del	XP_006716995.1:n.1080+47_1080+48del
XM_011518140.1:c.1284+47_1284+48del	XP_011516442.1:n.1284+47_1284+48del
XM_011518141.1:c.1218+47_1218+48del	XP_011516443.1:n.1218+47_1218+48del
XM_011518142.1:c.1122+47_1122+48del	XP_011516444.1:n.1122+47_1122+48del
XM_011518143.1:c.1116+47_1116+48del	XP_011516445.1:n.1116+47_1116+48del
XM_011518144.1:c.1431+47_1431+48del	XP_011516446.1:n.1431+47_1431+48del
XM_011518145.1:c.975+47_975+48del	XP_011516447.1:n.975+47_975+48del
XM_011518146.1:c.1116+47_1116+48del	XP_011516448.1:n.1116+47_1116+48del
XM_011518147.1:c.303+47_303+48del	XP_011516449.1:n.303+47_303+48del
XR_929703.1:n.1607+47_1607+48del
NM_001353193.1:c.1431+47_1431+48del	NP_001340122.1:n.1431+47_1431+48del
NM_001353194.1:c.1203+47_1203+48del	NP_001340123.1:n.1203+47_1203+48del
NM_001353195.1:c.1014+47_1014+48del	NP_001340124.1:n.1014+47_1014+48del
NM_001353196.1:c.1275+47_1275+48del	NP_001340125.1:n.1275+47_1275+48del
NM_001353197.1:c.1269+47_1269+48del	NP_001340126.1:n.1269+47_1269+48del
NM_001353198.1:c.1269+47_1269+48del	NP_001340127.1:n.1269+47_1269+48del
NM_001353199.1:c.1080+47_1080+48del	NP_001340128.1:n.1080+47_1080+48del
NM_001353200.1:c.909+47_909+48del	NP_001340129.1:n.909+47_909+48del
NR_148391.1:n.1415+47_1415+48del
NR_148392.1:n.1633+47_1633+48del
NR_148393.1:n.1415+47_1415+48del
NR_148394.1:n.1308+47_1308+48del
NR_148395.1:n.1567+47_1567+48del
NR_148396.1:n.1201+47_1201+48del
NR_148397.1:n.1465+47_1465+48del
NR_148398.1:n.1420+47_1420+48del
NR_148399.1:n.1807+47_1807+48del
NR_148400.1:n.1406+47_1406+48del
XM_005272162.3:c.234+47_234+48del	XP_005272219.1:n.234+47_234+48del
XM_006716932.2:c.1080+47_1080+48del	XP_006716995.1:n.1080+47_1080+48del
XM_011518140.2:c.1284+47_1284+48del	XP_011516442.1:n.1284+47_1284+48del
XM_011518141.2:c.1218+47_1218+48del	XP_011516443.1:n.1218+47_1218+48del
XM_011518142.2:c.1122+47_1122+48del	XP_011516444.1:n.1122+47_1122+48del
XM_011518143.2:c.1116+47_1116+48del	XP_011516445.1:n.1116+47_1116+48del
XM_011518145.2:c.975+47_975+48del	XP_011516447.1:n.975+47_975+48del
XM_017014205.2:c.234+47_234+48del	XP_016869694.1:n.234+47_234+48del
XM_024447380.1:c.234+47_234+48del	XP_024303148.1:n.234+47_234+48del
XM_024447381.1:c.540+47_540+48del	XP_024303149.1:n.540+47_540+48del
XM_024447382.1:c.234+47_234+48del	XP_024303150.1:n.234+47_234+48del
XR_001746160.2:n.1535+47_1535+48del
XR_001746162.2:n.1601+47_1601+48del
XR_001746164.1:n.1318+47_1318+48del
XR_001746166.2:n.1752+47_1752+48del
NM_001077365.2:c.1365+47_1365+48del MANE Select	NP_001070833.1:n.1365+47_1365+48del
NM_001077366.2:c.1203+47_1203+48del	NP_001070834.1:n.1203+47_1203+48del
NM_001136113.2:c.1365+47_1365+48del	NP_001129585.1:n.1365+47_1365+48del
NM_001136114.2:c.1014+47_1014+48del	NP_001129586.1:n.1014+47_1014+48del
NM_001353193.2:c.1431+47_1431+48del	NP_001340122.2:n.1431+47_1431+48del
NM_001353194.2:c.1203+47_1203+48del	NP_001340123.1:n.1203+47_1203+48del
NM_001353195.2:c.1014+47_1014+48del	NP_001340124.1:n.1014+47_1014+48del
NM_001353196.2:c.1275+47_1275+48del	NP_001340125.1:n.1275+47_1275+48del
NM_001353197.2:c.1269+47_1269+48del	NP_001340126.2:n.1269+47_1269+48del
NM_001353198.2:c.1269+47_1269+48del	NP_001340127.2:n.1269+47_1269+48del
NM_001353199.2:c.1080+47_1080+48del	NP_001340128.2:n.1080+47_1080+48del
NM_001353200.2:c.909+47_909+48del	NP_001340129.1:n.909+47_909+48del
NM_001374689.1:c.1353+47_1353+48del	NP_001361618.1:n.1353+47_1353+48del
NM_001374690.1:c.1365+47_1365+48del	NP_001361619.1:n.1365+47_1365+48del
NM_001374691.1:c.1014+47_1014+48del	NP_001361620.1:n.1014+47_1014+48del
NM_001374692.1:c.1014+47_1014+48del	NP_001361621.1:n.1014+47_1014+48del
NM_001374693.1:c.1014+47_1014+48del	NP_001361622.1:n.1014+47_1014+48del
NM_001374695.1:c.975+47_975+48del	NP_001361624.1:n.975+47_975+48del
NM_007171.4:c.1431+47_1431+48del	NP_009102.4:n.1431+47_1431+48del
NR_148391.2:n.1399+47_1399+48del
NR_148392.2:n.1617+47_1617+48del
NR_148393.2:n.1399+47_1399+48del
NR_148394.2:n.1292+47_1292+48del
NR_148395.2:n.1551+47_1551+48del
NR_148396.2:n.1185+47_1185+48del
NR_148397.2:n.1449+47_1449+48del
NR_148398.2:n.1404+47_1404+48del
NR_148399.2:n.1791+47_1791+48del
NR_148400.2:n.1390+47_1390+48del