Canonical Allele Identifier: CA2692217826

Gene: POMT1

Linked Data

• gnomAD v4: 9-131513281-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131513285del , CM000671.2:g.131513285del	GRCh38
NC_000009.11:g.134388672del , CM000671.1:g.134388672del	GRCh37
NC_000009.10:g.133378493del	NCBI36
NG_008896.1:g.15384del
NG_008896.2:g.15384del

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.967del	ENSP00000343034.7:p.Asp323ThrfsTer9
ENST00000404875.7:n.1669del
ENST00000423007.6:c.1186del	ENSP00000404119.2:p.Asp396ThrfsTer9
ENST00000677295.2:c.*1473del	ENSP00000504346.2:n.*1473del
ENST00000678264.2:c.*1312del	ENSP00000503157.2:n.*1312del
ENST00000682070.1:n.1594del
ENST00000682813.1:n.1394del
ENST00000683392.1:n.3876del
ENST00000683712.1:n.1534del
ENST00000683900.1:n.3029del
ENST00000684062.1:n.1795del
ENST00000684579.1:n.2975del
ENST00000341012.12:c.967del	ENSP00000343034.7:p.Asp323ThrfsTer9
ENST00000372220.5:c.-3del	ENSP00000361294.5:n.-3del
ENST00000372228.9:c.1195del	ENSP00000361302.3:p.Asp399ThrfsTer9
ENST00000402686.8:c.1129del MANE Select	ENSP00000385797.4:p.Asp377ThrfsTer9
ENST00000676640.1:c.1129del	ENSP00000503281.1:p.Asp377ThrfsTer9
ENST00000676803.1:c.304del	ENSP00000503093.1:p.Asp102ThrfsTer9
ENST00000676835.1:c.*344del	ENSP00000502911.1:n.*344del
ENST00000677029.1:c.673del	ENSP00000502936.1:p.Asp225ThrfsTer9
ENST00000677099.1:c.*839del	ENSP00000504553.1:n.*839del
ENST00000677216.1:c.778del	ENSP00000503772.1:p.Asp260ThrfsTer9
ENST00000677293.1:c.304del	ENSP00000504278.1:p.Asp102ThrfsTer9
ENST00000677295.1:c.*506del	ENSP00000504346.1:n.*506del
ENST00000677444.1:c.935del
ENST00000677586.1:n.610del
ENST00000677626.1:c.824+1818del	ENSP00000503552.1:n.824+1818del
ENST00000677677.1:n.1089del
ENST00000677853.1:c.*137del	ENSP00000503488.1:n.*137del
ENST00000677944.1:c.391del
ENST00000678264.1:c.*506del	ENSP00000503157.1:n.*506del
ENST00000678303.1:c.1039del	ENSP00000503696.1:p.Asp347ThrfsTer9
ENST00000678366.1:c.*1378del	ENSP00000504353.1:n.*1378del
ENST00000678546.1:c.*1074del	ENSP00000503062.1:n.*1074del
ENST00000678548.1:c.*1201del	ENSP00000503934.1:n.*1201del
ENST00000678626.1:n.826del
ENST00000678733.1:c.256+1149del
ENST00000678739.1:c.*1455del	ENSP00000503806.1:n.*1455del
ENST00000678795.1:n.216del
ENST00000678833.1:c.*576del	ENSP00000503893.1:n.*576del
ENST00000678942.1:c.309del	ENSP00000504690.1:n.309del
ENST00000679023.1:c.967del	ENSP00000503718.1:p.Asp323ThrfsTer9
ENST00000679073.1:c.507del	ENSP00000504356.1:n.507del
ENST00000679076.1:c.748del
ENST00000679111.1:c.1129del	ENSP00000504257.1:p.Asp377ThrfsTer9
ENST00000679189.1:c.778del	ENSP00000503356.1:p.Asp260ThrfsTer9
ENST00000341012.11:c.967del	ENSP00000343034.7:p.Asp323ThrfsTer9
ENST00000372228.7:c.1195del	ENSP00000361302.3:p.Asp399ThrfsTer9
ENST00000402686.7:c.1129del	ENSP00000385797.3:p.Asp377ThrfsTer9
ENST00000404875.6:c.778del	ENSP00000384531.2:p.Asp260ThrfsTer9
ENST00000423007.5:c.1129del	ENSP00000404119.1:p.Asp377ThrfsTer9
ENST00000441334.5:c.844del	ENSP00000395060.1:p.Asp282ThrfsTer9
ENST00000462375.5:n.955del
ENST00000485278.5:n.1684del
NM_001077365.1:c.1129del	NP_001070833.1:p.Asp377ThrfsTer9
NM_001077366.1:c.967del	NP_001070834.1:p.Asp323ThrfsTer9
NM_001136113.1:c.1129del	NP_001129585.1:p.Asp377ThrfsTer9
NM_001136114.1:c.778del	NP_001129586.1:p.Asp260ThrfsTer9
NM_007171.3:c.1195del	NP_009102.3:p.Asp399ThrfsTer9
XM_005272156.1:c.1195del	XP_005272213.1:p.Asp399ThrfsTer9
XM_005272158.1:c.1033del	XP_005272215.1:p.Asp345ThrfsTer9
XM_005272159.1:c.844del	XP_005272216.1:p.Asp282ThrfsTer9
XM_005272162.1:c.-3del	XP_005272219.1:n.-3del
XM_006716932.1:c.844del	XP_006716995.1:p.Asp282ThrfsTer9
XM_011518140.1:c.1048del	XP_011516442.1:p.Asp350ThrfsTer9
XM_011518141.1:c.982del	XP_011516443.1:p.Asp328ThrfsTer9
XM_011518142.1:c.886del	XP_011516444.1:p.Asp296ThrfsTer9
XM_011518143.1:c.880del	XP_011516445.1:p.Asp294ThrfsTer9
XM_011518144.1:c.1195del	XP_011516446.1:p.Asp399ThrfsTer9
XM_011518145.1:c.739del	XP_011516447.1:p.Asp247ThrfsTer9
XM_011518146.1:c.880del	XP_011516448.1:p.Asp294ThrfsTer9
XR_929703.1:n.1371del
NM_001353193.1:c.1195del	NP_001340122.1:p.Asp399ThrfsTer9
NM_001353194.1:c.967del	NP_001340123.1:p.Asp323ThrfsTer9
NM_001353195.1:c.778del	NP_001340124.1:p.Asp260ThrfsTer9
NM_001353196.1:c.1039del	NP_001340125.1:p.Asp347ThrfsTer9
NM_001353197.1:c.1033del	NP_001340126.1:p.Asp345ThrfsTer9
NM_001353198.1:c.1033del	NP_001340127.1:p.Asp345ThrfsTer9
NM_001353199.1:c.844del	NP_001340128.1:p.Asp282ThrfsTer9
NM_001353200.1:c.673del	NP_001340129.1:p.Asp225ThrfsTer9
NR_148391.1:n.1179del
NR_148392.1:n.1397del
NR_148393.1:n.1179del
NR_148394.1:n.1072del
NR_148395.1:n.1331del
NR_148396.1:n.965del
NR_148397.1:n.1229del
NR_148398.1:n.1184del
NR_148399.1:n.1571del
NR_148400.1:n.1170del
XM_005272162.3:c.-3del	XP_005272219.1:n.-3del
XM_006716932.2:c.844del	XP_006716995.1:p.Asp282ThrfsTer9
XM_011518140.2:c.1048del	XP_011516442.1:p.Asp350ThrfsTer9
XM_011518141.2:c.982del	XP_011516443.1:p.Asp328ThrfsTer9
XM_011518142.2:c.886del	XP_011516444.1:p.Asp296ThrfsTer9
XM_011518143.2:c.880del	XP_011516445.1:p.Asp294ThrfsTer9
XM_011518145.2:c.739del	XP_011516447.1:p.Asp247ThrfsTer9
XM_017014205.2:c.-3del	XP_016869694.1:n.-3del
XM_024447380.1:c.-3del	XP_024303148.1:n.-3del
XM_024447381.1:c.304del	XP_024303149.1:p.Asp102ThrfsTer9
XM_024447382.1:c.-3del	XP_024303150.1:n.-3del
XR_001746160.2:n.1299del
XR_001746162.2:n.1365del
XR_001746164.1:n.1082del
XR_001746166.2:n.1516del
NM_001077365.2:c.1129del MANE Select	NP_001070833.1:p.Asp377ThrfsTer9
NM_001077366.2:c.967del	NP_001070834.1:p.Asp323ThrfsTer9
NM_001136113.2:c.1129del	NP_001129585.1:p.Asp377ThrfsTer9
NM_001136114.2:c.778del	NP_001129586.1:p.Asp260ThrfsTer9
NM_001353193.2:c.1195del	NP_001340122.2:p.Asp399ThrfsTer9
NM_001353194.2:c.967del	NP_001340123.1:p.Asp323ThrfsTer9
NM_001353195.2:c.778del	NP_001340124.1:p.Asp260ThrfsTer9
NM_001353196.2:c.1039del	NP_001340125.1:p.Asp347ThrfsTer9
NM_001353197.2:c.1033del	NP_001340126.2:p.Asp345ThrfsTer9
NM_001353198.2:c.1033del	NP_001340127.2:p.Asp345ThrfsTer9
NM_001353199.2:c.844del	NP_001340128.2:p.Asp282ThrfsTer9
NM_001353200.2:c.673del	NP_001340129.1:p.Asp225ThrfsTer9
NM_001374689.1:c.1117del	NP_001361618.1:p.Asp373ThrfsTer9
NM_001374690.1:c.1129del	NP_001361619.1:p.Asp377ThrfsTer9
NM_001374691.1:c.778del	NP_001361620.1:p.Asp260ThrfsTer9
NM_001374692.1:c.778del	NP_001361621.1:p.Asp260ThrfsTer9
NM_001374693.1:c.824+1818del	NP_001361622.1:n.824+1818del
NM_001374695.1:c.739del	NP_001361624.1:p.Asp247ThrfsTer9
NM_007171.4:c.1195del	NP_009102.4:p.Asp399ThrfsTer9
NR_148391.2:n.1163del
NR_148392.2:n.1381del
NR_148393.2:n.1163del
NR_148394.2:n.1056del
NR_148395.2:n.1315del
NR_148396.2:n.949del
NR_148397.2:n.1213del
NR_148398.2:n.1168del
NR_148399.2:n.1555del
NR_148400.2:n.1154del