Canonical Allele Identifier: CA1129598318

Gene: POMT1

Linked Data

• gnomAD v3: 9-131515896-TGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAACACTTCCTCTAACACAGGACACTTCCTCTCACACTCACAC-T
• gnomAD v4: 9-131515896-TGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAACACTTCCTCTAACACAGGACACTTCCTCTCACACTCACAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515910_131516004del , CM000671.2:g.131515910_131516004del	GRCh38
NC_000009.11:g.134391297_134391391del , CM000671.1:g.134391297_134391391del	GRCh37
NC_000009.10:g.133381118_133381212del	NCBI36
NG_008896.1:g.18009_18103del
NG_008896.2:g.18009_18103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1110+388_1110+482del	ENSP00000343034.7:n.1110+388_1110+482del
ENST00000404875.7:n.1812+388_1812+482del
ENST00000423007.6:c.1329+388_1329+482del	ENSP00000404119.2:n.1329+388_1329+482del
ENST00000677295.2:c.*1616+388_*1616+482del	ENSP00000504346.2:n.*1616+388_*1616+482del
ENST00000678264.2:c.*1455+388_*1455+482del	ENSP00000503157.2:n.*1455+388_*1455+482del
ENST00000682070.1:n.1737+388_1737+482del
ENST00000682539.1:c.97+388_97+482del
ENST00000682813.1:n.1537+388_1537+482del
ENST00000683392.1:n.4019+388_4019+482del
ENST00000683712.1:n.1677+388_1677+482del
ENST00000683900.1:n.3172+388_3172+482del
ENST00000684062.1:n.1938+388_1938+482del
ENST00000684579.1:n.3118+388_3118+482del
ENST00000341012.12:c.1110+388_1110+482del	ENSP00000343034.7:n.1110+388_1110+482del
ENST00000372220.5:c.141+388_141+482del	ENSP00000361294.5:n.141+388_141+482del
ENST00000372228.9:c.1338+388_1338+482del	ENSP00000361302.3:n.1338+388_1338+482del
ENST00000402686.8:c.1272+388_1272+482del MANE Select	ENSP00000385797.4:n.1272+388_1272+482del
ENST00000676640.1:c.1272+388_1272+482del	ENSP00000503281.1:n.1272+388_1272+482del
ENST00000676803.1:c.447+388_447+482del	ENSP00000503093.1:n.447+388_447+482del
ENST00000676835.1:c.*487+388_*487+482del	ENSP00000502911.1:n.*487+388_*487+482del
ENST00000677029.1:c.816+388_816+482del	ENSP00000502936.1:n.816+388_816+482del
ENST00000677099.1:c.*982+388_*982+482del	ENSP00000504553.1:n.*982+388_*982+482del
ENST00000677216.1:c.921+388_921+482del	ENSP00000503772.1:n.921+388_921+482del
ENST00000677295.1:c.*649+388_*649+482del	ENSP00000504346.1:n.*649+388_*649+482del
ENST00000677444.1:c.1078+388_1078+482del
ENST00000677586.1:n.753+388_753+482del
ENST00000677626.1:c.921+388_921+482del	ENSP00000503552.1:n.921+388_921+482del
ENST00000677677.1:n.1232+388_1232+482del
ENST00000677853.1:c.*280+388_*280+482del	ENSP00000503488.1:n.*280+388_*280+482del
ENST00000677944.1:c.534+388_534+482del
ENST00000678264.1:c.*649+388_*649+482del	ENSP00000503157.1:n.*649+388_*649+482del
ENST00000678303.1:c.1182+388_1182+482del	ENSP00000503696.1:n.1182+388_1182+482del
ENST00000678366.1:c.*1521+388_*1521+482del	ENSP00000504353.1:n.*1521+388_*1521+482del
ENST00000678546.1:c.*1217+388_*1217+482del	ENSP00000503062.1:n.*1217+388_*1217+482del
ENST00000678548.1:c.*1344+388_*1344+482del	ENSP00000503934.1:n.*1344+388_*1344+482del
ENST00000678626.1:n.969+388_969+482del
ENST00000678733.1:c.353+388_353+482del
ENST00000678739.1:c.*1598+388_*1598+482del	ENSP00000503806.1:n.*1598+388_*1598+482del
ENST00000678795.1:n.359+388_359+482del
ENST00000678833.1:c.*719+388_*719+482del	ENSP00000503893.1:n.*719+388_*719+482del
ENST00000678942.1:c.452+388_452+482del	ENSP00000504690.1:n.452+388_452+482del
ENST00000679023.1:c.1110+388_1110+482del	ENSP00000503718.1:n.1110+388_1110+482del
ENST00000679076.1:c.891+388_891+482del
ENST00000679111.1:c.1272+388_1272+482del	ENSP00000504257.1:n.1272+388_1272+482del
ENST00000679189.1:c.921+388_921+482del	ENSP00000503356.1:n.921+388_921+482del
ENST00000341012.11:c.1110+388_1110+482del	ENSP00000343034.7:n.1110+388_1110+482del
ENST00000372228.7:c.1338+388_1338+482del	ENSP00000361302.3:n.1338+388_1338+482del
ENST00000402686.7:c.1272+388_1272+482del	ENSP00000385797.3:n.1272+388_1272+482del
ENST00000404875.6:c.921+388_921+482del	ENSP00000384531.2:n.921+388_921+482del
ENST00000423007.5:c.1272+388_1272+482del	ENSP00000404119.1:n.1272+388_1272+482del
ENST00000485278.5:n.1827+388_1827+482del
NM_001077365.1:c.1272+388_1272+482del	NP_001070833.1:n.1272+388_1272+482del
NM_001077366.1:c.1110+388_1110+482del	NP_001070834.1:n.1110+388_1110+482del
NM_001136113.1:c.1272+388_1272+482del	NP_001129585.1:n.1272+388_1272+482del
NM_001136114.1:c.921+388_921+482del	NP_001129586.1:n.921+388_921+482del
NM_007171.3:c.1338+388_1338+482del	NP_009102.3:n.1338+388_1338+482del
XM_005272156.1:c.1338+388_1338+482del	XP_005272213.1:n.1338+388_1338+482del
XM_005272158.1:c.1176+388_1176+482del	XP_005272215.1:n.1176+388_1176+482del
XM_005272159.1:c.987+388_987+482del	XP_005272216.1:n.987+388_987+482del
XM_005272162.1:c.141+388_141+482del	XP_005272219.1:n.141+388_141+482del
XM_006716932.1:c.987+388_987+482del	XP_006716995.1:n.987+388_987+482del
XM_011518140.1:c.1191+388_1191+482del	XP_011516442.1:n.1191+388_1191+482del
XM_011518141.1:c.1125+388_1125+482del	XP_011516443.1:n.1125+388_1125+482del
XM_011518142.1:c.1029+388_1029+482del	XP_011516444.1:n.1029+388_1029+482del
XM_011518143.1:c.1023+388_1023+482del	XP_011516445.1:n.1023+388_1023+482del
XM_011518144.1:c.1338+388_1338+482del	XP_011516446.1:n.1338+388_1338+482del
XM_011518145.1:c.882+388_882+482del	XP_011516447.1:n.882+388_882+482del
XM_011518146.1:c.1023+388_1023+482del	XP_011516448.1:n.1023+388_1023+482del
XR_929703.1:n.1514+388_1514+482del
NM_001353193.1:c.1338+388_1338+482del	NP_001340122.1:n.1338+388_1338+482del
NM_001353194.1:c.1110+388_1110+482del	NP_001340123.1:n.1110+388_1110+482del
NM_001353195.1:c.921+388_921+482del	NP_001340124.1:n.921+388_921+482del
NM_001353196.1:c.1182+388_1182+482del	NP_001340125.1:n.1182+388_1182+482del
NM_001353197.1:c.1176+388_1176+482del	NP_001340126.1:n.1176+388_1176+482del
NM_001353198.1:c.1176+388_1176+482del	NP_001340127.1:n.1176+388_1176+482del
NM_001353199.1:c.987+388_987+482del	NP_001340128.1:n.987+388_987+482del
NM_001353200.1:c.816+388_816+482del	NP_001340129.1:n.816+388_816+482del
NR_148391.1:n.1322+388_1322+482del
NR_148392.1:n.1540+388_1540+482del
NR_148393.1:n.1322+388_1322+482del
NR_148394.1:n.1215+388_1215+482del
NR_148395.1:n.1474+388_1474+482del
NR_148396.1:n.1108+388_1108+482del
NR_148397.1:n.1372+388_1372+482del
NR_148398.1:n.1327+388_1327+482del
NR_148399.1:n.1714+388_1714+482del
NR_148400.1:n.1313+388_1313+482del
XM_005272162.3:c.141+388_141+482del	XP_005272219.1:n.141+388_141+482del
XM_006716932.2:c.987+388_987+482del	XP_006716995.1:n.987+388_987+482del
XM_011518140.2:c.1191+388_1191+482del	XP_011516442.1:n.1191+388_1191+482del
XM_011518141.2:c.1125+388_1125+482del	XP_011516443.1:n.1125+388_1125+482del
XM_011518142.2:c.1029+388_1029+482del	XP_011516444.1:n.1029+388_1029+482del
XM_011518143.2:c.1023+388_1023+482del	XP_011516445.1:n.1023+388_1023+482del
XM_011518145.2:c.882+388_882+482del	XP_011516447.1:n.882+388_882+482del
XM_017014205.2:c.141+388_141+482del	XP_016869694.1:n.141+388_141+482del
XM_024447380.1:c.141+388_141+482del	XP_024303148.1:n.141+388_141+482del
XM_024447381.1:c.447+388_447+482del	XP_024303149.1:n.447+388_447+482del
XM_024447382.1:c.141+388_141+482del	XP_024303150.1:n.141+388_141+482del
XR_001746160.2:n.1442+388_1442+482del
XR_001746162.2:n.1508+388_1508+482del
XR_001746164.1:n.1225+388_1225+482del
XR_001746166.2:n.1659+388_1659+482del
NM_001077365.2:c.1272+388_1272+482del MANE Select	NP_001070833.1:n.1272+388_1272+482del
NM_001077366.2:c.1110+388_1110+482del	NP_001070834.1:n.1110+388_1110+482del
NM_001136113.2:c.1272+388_1272+482del	NP_001129585.1:n.1272+388_1272+482del
NM_001136114.2:c.921+388_921+482del	NP_001129586.1:n.921+388_921+482del
NM_001353193.2:c.1338+388_1338+482del	NP_001340122.2:n.1338+388_1338+482del
NM_001353194.2:c.1110+388_1110+482del	NP_001340123.1:n.1110+388_1110+482del
NM_001353195.2:c.921+388_921+482del	NP_001340124.1:n.921+388_921+482del
NM_001353196.2:c.1182+388_1182+482del	NP_001340125.1:n.1182+388_1182+482del
NM_001353197.2:c.1176+388_1176+482del	NP_001340126.2:n.1176+388_1176+482del
NM_001353198.2:c.1176+388_1176+482del	NP_001340127.2:n.1176+388_1176+482del
NM_001353199.2:c.987+388_987+482del	NP_001340128.2:n.987+388_987+482del
NM_001353200.2:c.816+388_816+482del	NP_001340129.1:n.816+388_816+482del
NM_001374689.1:c.1260+388_1260+482del	NP_001361618.1:n.1260+388_1260+482del
NM_001374690.1:c.1272+388_1272+482del	NP_001361619.1:n.1272+388_1272+482del
NM_001374691.1:c.921+388_921+482del	NP_001361620.1:n.921+388_921+482del
NM_001374692.1:c.921+388_921+482del	NP_001361621.1:n.921+388_921+482del
NM_001374693.1:c.921+388_921+482del	NP_001361622.1:n.921+388_921+482del
NM_001374695.1:c.882+388_882+482del	NP_001361624.1:n.882+388_882+482del
NM_007171.4:c.1338+388_1338+482del	NP_009102.4:n.1338+388_1338+482del
NR_148391.2:n.1306+388_1306+482del
NR_148392.2:n.1524+388_1524+482del
NR_148393.2:n.1306+388_1306+482del
NR_148394.2:n.1199+388_1199+482del
NR_148395.2:n.1458+388_1458+482del
NR_148396.2:n.1092+388_1092+482del
NR_148397.2:n.1356+388_1356+482del
NR_148398.2:n.1311+388_1311+482del
NR_148399.2:n.1698+388_1698+482del
NR_148400.2:n.1297+388_1297+482del