Canonical Allele Identifier: CA1881751839

Gene: POMT1

Linked Data

• dbSNP Id: rs1949209866

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518480del , CM000671.2:g.131518480del	GRCh38
NC_000009.11:g.134393867del , CM000671.1:g.134393867del	GRCh37
NC_000009.10:g.133383688del	NCBI36
NG_008896.1:g.20579del
NG_008896.2:g.20579del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1146del	ENSP00000343034.7:p.Trp382Ter
ENST00000404875.7:n.1848del
ENST00000423007.6:c.1365del	ENSP00000404119.2:p.Trp455Ter
ENST00000677295.2:c.*1652del	ENSP00000504346.2:n.*1652del
ENST00000678264.2:c.*1491del	ENSP00000503157.2:n.*1491del
ENST00000682070.1:n.1773del
ENST00000682535.1:n.80del
ENST00000682539.1:c.246del
ENST00000682813.1:n.1573del
ENST00000683110.1:n.36del
ENST00000683392.1:n.4055del
ENST00000683712.1:n.1713del
ENST00000683900.1:n.3208del
ENST00000684062.1:n.1974del
ENST00000684579.1:n.3154del
ENST00000684679.1:n.535del
ENST00000341012.12:c.1146del	ENSP00000343034.7:p.Trp382Ter
ENST00000372220.5:c.177del	ENSP00000361294.5:p.Trp59Ter
ENST00000372228.9:c.1374del	ENSP00000361302.3:p.Trp458Ter
ENST00000402686.8:c.1308del MANE Select	ENSP00000385797.4:p.Trp436Ter
ENST00000676640.1:c.1308del	ENSP00000503281.1:p.Trp436Ter
ENST00000676803.1:c.483del	ENSP00000503093.1:p.Trp161Ter
ENST00000676835.1:c.*523del	ENSP00000502911.1:n.*523del
ENST00000677029.1:c.852del	ENSP00000502936.1:p.Trp284Ter
ENST00000677099.1:c.*1018del	ENSP00000504553.1:n.*1018del
ENST00000677216.1:c.957del	ENSP00000503772.1:p.Trp319Ter
ENST00000677221.1:n.333del
ENST00000677295.1:c.*685del	ENSP00000504346.1:n.*685del
ENST00000677444.1:c.1114del
ENST00000677586.1:n.789del
ENST00000677626.1:c.957del	ENSP00000503552.1:p.Trp319Ter
ENST00000677677.1:n.1268del
ENST00000677853.1:c.*316del	ENSP00000503488.1:n.*316del
ENST00000677983.1:n.397del
ENST00000678202.1:n.328del
ENST00000678264.1:c.*685del	ENSP00000503157.1:n.*685del
ENST00000678303.1:c.1218del	ENSP00000503696.1:p.Trp406Ter
ENST00000678366.1:c.*1557del	ENSP00000504353.1:n.*1557del
ENST00000678546.1:c.*1253del	ENSP00000503062.1:n.*1253del
ENST00000678548.1:c.*1380del	ENSP00000503934.1:n.*1380del
ENST00000678626.1:n.1005del
ENST00000678733.1:c.389del
ENST00000678739.1:c.*1634del	ENSP00000503806.1:n.*1634del
ENST00000678795.1:n.395del
ENST00000678833.1:c.*755del	ENSP00000503893.1:n.*755del
ENST00000678942.1:c.488del	ENSP00000504690.1:n.488del
ENST00000679023.1:c.1146del	ENSP00000503718.1:p.Trp382Ter
ENST00000679076.1:c.927del
ENST00000679111.1:c.1308del	ENSP00000504257.1:p.Trp436Ter
ENST00000679189.1:c.957del	ENSP00000503356.1:p.Trp319Ter
ENST00000341012.11:c.1146del	ENSP00000343034.7:p.Trp382Ter
ENST00000372220.4:c.171del	ENSP00000361294.4:p.Trp57Ter
ENST00000372228.7:c.1374del	ENSP00000361302.3:p.Trp458Ter
ENST00000402686.7:c.1308del	ENSP00000385797.3:p.Trp436Ter
ENST00000404875.6:c.957del	ENSP00000384531.2:p.Trp319Ter
ENST00000423007.5:c.1308del	ENSP00000404119.1:p.Trp436Ter
ENST00000485278.5:n.1863del
NM_001077365.1:c.1308del	NP_001070833.1:p.Trp436Ter
NM_001077366.1:c.1146del	NP_001070834.1:p.Trp382Ter
NM_001136113.1:c.1308del	NP_001129585.1:p.Trp436Ter
NM_001136114.1:c.957del	NP_001129586.1:p.Trp319Ter
NM_007171.3:c.1374del	NP_009102.3:p.Trp458Ter
XM_005272156.1:c.1374del	XP_005272213.1:p.Trp458Ter
XM_005272158.1:c.1212del	XP_005272215.1:p.Trp404Ter
XM_005272159.1:c.1023del	XP_005272216.1:p.Trp341Ter
XM_005272162.1:c.177del	XP_005272219.1:p.Trp59Ter
XM_006716932.1:c.1023del	XP_006716995.1:p.Trp341Ter
XM_011518140.1:c.1227del	XP_011516442.1:p.Trp409Ter
XM_011518141.1:c.1161del	XP_011516443.1:p.Trp387Ter
XM_011518142.1:c.1065del	XP_011516444.1:p.Trp355Ter
XM_011518143.1:c.1059del	XP_011516445.1:p.Trp353Ter
XM_011518144.1:c.1374del	XP_011516446.1:p.Trp458Ter
XM_011518145.1:c.918del	XP_011516447.1:p.Trp306Ter
XM_011518146.1:c.1059del	XP_011516448.1:p.Trp353Ter
XM_011518147.1:c.246del	XP_011516449.1:p.Trp82Ter
XR_929703.1:n.1550del
NM_001353193.1:c.1374del	NP_001340122.1:p.Trp458Ter
NM_001353194.1:c.1146del	NP_001340123.1:p.Trp382Ter
NM_001353195.1:c.957del	NP_001340124.1:p.Trp319Ter
NM_001353196.1:c.1218del	NP_001340125.1:p.Trp406Ter
NM_001353197.1:c.1212del	NP_001340126.1:p.Trp404Ter
NM_001353198.1:c.1212del	NP_001340127.1:p.Trp404Ter
NM_001353199.1:c.1023del	NP_001340128.1:p.Trp341Ter
NM_001353200.1:c.852del	NP_001340129.1:p.Trp284Ter
NR_148391.1:n.1358del
NR_148392.1:n.1576del
NR_148393.1:n.1358del
NR_148394.1:n.1251del
NR_148395.1:n.1510del
NR_148396.1:n.1144del
NR_148397.1:n.1408del
NR_148398.1:n.1363del
NR_148399.1:n.1750del
NR_148400.1:n.1349del
XM_005272162.3:c.177del	XP_005272219.1:p.Trp59Ter
XM_006716932.2:c.1023del	XP_006716995.1:p.Trp341Ter
XM_011518140.2:c.1227del	XP_011516442.1:p.Trp409Ter
XM_011518141.2:c.1161del	XP_011516443.1:p.Trp387Ter
XM_011518142.2:c.1065del	XP_011516444.1:p.Trp355Ter
XM_011518143.2:c.1059del	XP_011516445.1:p.Trp353Ter
XM_011518145.2:c.918del	XP_011516447.1:p.Trp306Ter
XM_017014205.2:c.177del	XP_016869694.1:p.Trp59Ter
XM_024447380.1:c.177del	XP_024303148.1:p.Trp59Ter
XM_024447381.1:c.483del	XP_024303149.1:p.Trp161Ter
XM_024447382.1:c.177del	XP_024303150.1:p.Trp59Ter
XR_001746160.2:n.1478del
XR_001746162.2:n.1544del
XR_001746164.1:n.1261del
XR_001746166.2:n.1695del
NM_001077365.2:c.1308del MANE Select	NP_001070833.1:p.Trp436Ter
NM_001077366.2:c.1146del	NP_001070834.1:p.Trp382Ter
NM_001136113.2:c.1308del	NP_001129585.1:p.Trp436Ter
NM_001136114.2:c.957del	NP_001129586.1:p.Trp319Ter
NM_001353193.2:c.1374del	NP_001340122.2:p.Trp458Ter
NM_001353194.2:c.1146del	NP_001340123.1:p.Trp382Ter
NM_001353195.2:c.957del	NP_001340124.1:p.Trp319Ter
NM_001353196.2:c.1218del	NP_001340125.1:p.Trp406Ter
NM_001353197.2:c.1212del	NP_001340126.2:p.Trp404Ter
NM_001353198.2:c.1212del	NP_001340127.2:p.Trp404Ter
NM_001353199.2:c.1023del	NP_001340128.2:p.Trp341Ter
NM_001353200.2:c.852del	NP_001340129.1:p.Trp284Ter
NM_001374689.1:c.1296del	NP_001361618.1:p.Trp432Ter
NM_001374690.1:c.1308del	NP_001361619.1:p.Trp436Ter
NM_001374691.1:c.957del	NP_001361620.1:p.Trp319Ter
NM_001374692.1:c.957del	NP_001361621.1:p.Trp319Ter
NM_001374693.1:c.957del	NP_001361622.1:p.Trp319Ter
NM_001374695.1:c.918del	NP_001361624.1:p.Trp306Ter
NM_007171.4:c.1374del	NP_009102.4:p.Trp458Ter
NR_148391.2:n.1342del
NR_148392.2:n.1560del
NR_148393.2:n.1342del
NR_148394.2:n.1235del
NR_148395.2:n.1494del
NR_148396.2:n.1128del
NR_148397.2:n.1392del
NR_148398.2:n.1347del
NR_148399.2:n.1734del
NR_148400.2:n.1333del