Canonical Allele Identifier: CA1129598291

Gene: POMT1

Linked Data

• gnomAD v3: 9-131515882-GACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGA-G
• gnomAD v4: 9-131515882-GACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515893_131515960del , CM000671.2:g.131515893_131515960del	GRCh38
NC_000009.11:g.134391280_134391347del , CM000671.1:g.134391280_134391347del	GRCh37
NC_000009.10:g.133381101_133381168del	NCBI36
NG_008896.1:g.17992_18059del
NG_008896.2:g.17992_18059del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1110+371_1110+438del	ENSP00000343034.7:n.1110+371_1110+438del
ENST00000404875.7:n.1812+371_1812+438del
ENST00000423007.6:c.1329+371_1329+438del	ENSP00000404119.2:n.1329+371_1329+438del
ENST00000677295.2:c.*1616+371_*1616+438del	ENSP00000504346.2:n.*1616+371_*1616+438del
ENST00000678264.2:c.*1455+371_*1455+438del	ENSP00000503157.2:n.*1455+371_*1455+438del
ENST00000682070.1:n.1737+371_1737+438del
ENST00000682539.1:c.97+371_97+438del
ENST00000682813.1:n.1537+371_1537+438del
ENST00000683392.1:n.4019+371_4019+438del
ENST00000683712.1:n.1677+371_1677+438del
ENST00000683900.1:n.3172+371_3172+438del
ENST00000684062.1:n.1938+371_1938+438del
ENST00000684579.1:n.3118+371_3118+438del
ENST00000341012.12:c.1110+371_1110+438del	ENSP00000343034.7:n.1110+371_1110+438del
ENST00000372220.5:c.141+371_141+438del	ENSP00000361294.5:n.141+371_141+438del
ENST00000372228.9:c.1338+371_1338+438del	ENSP00000361302.3:n.1338+371_1338+438del
ENST00000402686.8:c.1272+371_1272+438del MANE Select	ENSP00000385797.4:n.1272+371_1272+438del
ENST00000676640.1:c.1272+371_1272+438del	ENSP00000503281.1:n.1272+371_1272+438del
ENST00000676803.1:c.447+371_447+438del	ENSP00000503093.1:n.447+371_447+438del
ENST00000676835.1:c.*487+371_*487+438del	ENSP00000502911.1:n.*487+371_*487+438del
ENST00000677029.1:c.816+371_816+438del	ENSP00000502936.1:n.816+371_816+438del
ENST00000677099.1:c.*982+371_*982+438del	ENSP00000504553.1:n.*982+371_*982+438del
ENST00000677216.1:c.921+371_921+438del	ENSP00000503772.1:n.921+371_921+438del
ENST00000677295.1:c.*649+371_*649+438del	ENSP00000504346.1:n.*649+371_*649+438del
ENST00000677444.1:c.1078+371_1078+438del
ENST00000677586.1:n.753+371_753+438del
ENST00000677626.1:c.921+371_921+438del	ENSP00000503552.1:n.921+371_921+438del
ENST00000677677.1:n.1232+371_1232+438del
ENST00000677853.1:c.*280+371_*280+438del	ENSP00000503488.1:n.*280+371_*280+438del
ENST00000677944.1:c.534+371_534+438del
ENST00000678264.1:c.*649+371_*649+438del	ENSP00000503157.1:n.*649+371_*649+438del
ENST00000678303.1:c.1182+371_1182+438del	ENSP00000503696.1:n.1182+371_1182+438del
ENST00000678366.1:c.*1521+371_*1521+438del	ENSP00000504353.1:n.*1521+371_*1521+438del
ENST00000678546.1:c.*1217+371_*1217+438del	ENSP00000503062.1:n.*1217+371_*1217+438del
ENST00000678548.1:c.*1344+371_*1344+438del	ENSP00000503934.1:n.*1344+371_*1344+438del
ENST00000678626.1:n.969+371_969+438del
ENST00000678733.1:c.353+371_353+438del
ENST00000678739.1:c.*1598+371_*1598+438del	ENSP00000503806.1:n.*1598+371_*1598+438del
ENST00000678795.1:n.359+371_359+438del
ENST00000678833.1:c.*719+371_*719+438del	ENSP00000503893.1:n.*719+371_*719+438del
ENST00000678942.1:c.452+371_452+438del	ENSP00000504690.1:n.452+371_452+438del
ENST00000679023.1:c.1110+371_1110+438del	ENSP00000503718.1:n.1110+371_1110+438del
ENST00000679076.1:c.891+371_891+438del
ENST00000679111.1:c.1272+371_1272+438del	ENSP00000504257.1:n.1272+371_1272+438del
ENST00000679189.1:c.921+371_921+438del	ENSP00000503356.1:n.921+371_921+438del
ENST00000341012.11:c.1110+371_1110+438del	ENSP00000343034.7:n.1110+371_1110+438del
ENST00000372228.7:c.1338+371_1338+438del	ENSP00000361302.3:n.1338+371_1338+438del
ENST00000402686.7:c.1272+371_1272+438del	ENSP00000385797.3:n.1272+371_1272+438del
ENST00000404875.6:c.921+371_921+438del	ENSP00000384531.2:n.921+371_921+438del
ENST00000423007.5:c.1272+371_1272+438del	ENSP00000404119.1:n.1272+371_1272+438del
ENST00000485278.5:n.1827+371_1827+438del
NM_001077365.1:c.1272+371_1272+438del	NP_001070833.1:n.1272+371_1272+438del
NM_001077366.1:c.1110+371_1110+438del	NP_001070834.1:n.1110+371_1110+438del
NM_001136113.1:c.1272+371_1272+438del	NP_001129585.1:n.1272+371_1272+438del
NM_001136114.1:c.921+371_921+438del	NP_001129586.1:n.921+371_921+438del
NM_007171.3:c.1338+371_1338+438del	NP_009102.3:n.1338+371_1338+438del
XM_005272156.1:c.1338+371_1338+438del	XP_005272213.1:n.1338+371_1338+438del
XM_005272158.1:c.1176+371_1176+438del	XP_005272215.1:n.1176+371_1176+438del
XM_005272159.1:c.987+371_987+438del	XP_005272216.1:n.987+371_987+438del
XM_005272162.1:c.141+371_141+438del	XP_005272219.1:n.141+371_141+438del
XM_006716932.1:c.987+371_987+438del	XP_006716995.1:n.987+371_987+438del
XM_011518140.1:c.1191+371_1191+438del	XP_011516442.1:n.1191+371_1191+438del
XM_011518141.1:c.1125+371_1125+438del	XP_011516443.1:n.1125+371_1125+438del
XM_011518142.1:c.1029+371_1029+438del	XP_011516444.1:n.1029+371_1029+438del
XM_011518143.1:c.1023+371_1023+438del	XP_011516445.1:n.1023+371_1023+438del
XM_011518144.1:c.1338+371_1338+438del	XP_011516446.1:n.1338+371_1338+438del
XM_011518145.1:c.882+371_882+438del	XP_011516447.1:n.882+371_882+438del
XM_011518146.1:c.1023+371_1023+438del	XP_011516448.1:n.1023+371_1023+438del
XR_929703.1:n.1514+371_1514+438del
NM_001353193.1:c.1338+371_1338+438del	NP_001340122.1:n.1338+371_1338+438del
NM_001353194.1:c.1110+371_1110+438del	NP_001340123.1:n.1110+371_1110+438del
NM_001353195.1:c.921+371_921+438del	NP_001340124.1:n.921+371_921+438del
NM_001353196.1:c.1182+371_1182+438del	NP_001340125.1:n.1182+371_1182+438del
NM_001353197.1:c.1176+371_1176+438del	NP_001340126.1:n.1176+371_1176+438del
NM_001353198.1:c.1176+371_1176+438del	NP_001340127.1:n.1176+371_1176+438del
NM_001353199.1:c.987+371_987+438del	NP_001340128.1:n.987+371_987+438del
NM_001353200.1:c.816+371_816+438del	NP_001340129.1:n.816+371_816+438del
NR_148391.1:n.1322+371_1322+438del
NR_148392.1:n.1540+371_1540+438del
NR_148393.1:n.1322+371_1322+438del
NR_148394.1:n.1215+371_1215+438del
NR_148395.1:n.1474+371_1474+438del
NR_148396.1:n.1108+371_1108+438del
NR_148397.1:n.1372+371_1372+438del
NR_148398.1:n.1327+371_1327+438del
NR_148399.1:n.1714+371_1714+438del
NR_148400.1:n.1313+371_1313+438del
XM_005272162.3:c.141+371_141+438del	XP_005272219.1:n.141+371_141+438del
XM_006716932.2:c.987+371_987+438del	XP_006716995.1:n.987+371_987+438del
XM_011518140.2:c.1191+371_1191+438del	XP_011516442.1:n.1191+371_1191+438del
XM_011518141.2:c.1125+371_1125+438del	XP_011516443.1:n.1125+371_1125+438del
XM_011518142.2:c.1029+371_1029+438del	XP_011516444.1:n.1029+371_1029+438del
XM_011518143.2:c.1023+371_1023+438del	XP_011516445.1:n.1023+371_1023+438del
XM_011518145.2:c.882+371_882+438del	XP_011516447.1:n.882+371_882+438del
XM_017014205.2:c.141+371_141+438del	XP_016869694.1:n.141+371_141+438del
XM_024447380.1:c.141+371_141+438del	XP_024303148.1:n.141+371_141+438del
XM_024447381.1:c.447+371_447+438del	XP_024303149.1:n.447+371_447+438del
XM_024447382.1:c.141+371_141+438del	XP_024303150.1:n.141+371_141+438del
XR_001746160.2:n.1442+371_1442+438del
XR_001746162.2:n.1508+371_1508+438del
XR_001746164.1:n.1225+371_1225+438del
XR_001746166.2:n.1659+371_1659+438del
NM_001077365.2:c.1272+371_1272+438del MANE Select	NP_001070833.1:n.1272+371_1272+438del
NM_001077366.2:c.1110+371_1110+438del	NP_001070834.1:n.1110+371_1110+438del
NM_001136113.2:c.1272+371_1272+438del	NP_001129585.1:n.1272+371_1272+438del
NM_001136114.2:c.921+371_921+438del	NP_001129586.1:n.921+371_921+438del
NM_001353193.2:c.1338+371_1338+438del	NP_001340122.2:n.1338+371_1338+438del
NM_001353194.2:c.1110+371_1110+438del	NP_001340123.1:n.1110+371_1110+438del
NM_001353195.2:c.921+371_921+438del	NP_001340124.1:n.921+371_921+438del
NM_001353196.2:c.1182+371_1182+438del	NP_001340125.1:n.1182+371_1182+438del
NM_001353197.2:c.1176+371_1176+438del	NP_001340126.2:n.1176+371_1176+438del
NM_001353198.2:c.1176+371_1176+438del	NP_001340127.2:n.1176+371_1176+438del
NM_001353199.2:c.987+371_987+438del	NP_001340128.2:n.987+371_987+438del
NM_001353200.2:c.816+371_816+438del	NP_001340129.1:n.816+371_816+438del
NM_001374689.1:c.1260+371_1260+438del	NP_001361618.1:n.1260+371_1260+438del
NM_001374690.1:c.1272+371_1272+438del	NP_001361619.1:n.1272+371_1272+438del
NM_001374691.1:c.921+371_921+438del	NP_001361620.1:n.921+371_921+438del
NM_001374692.1:c.921+371_921+438del	NP_001361621.1:n.921+371_921+438del
NM_001374693.1:c.921+371_921+438del	NP_001361622.1:n.921+371_921+438del
NM_001374695.1:c.882+371_882+438del	NP_001361624.1:n.882+371_882+438del
NM_007171.4:c.1338+371_1338+438del	NP_009102.4:n.1338+371_1338+438del
NR_148391.2:n.1306+371_1306+438del
NR_148392.2:n.1524+371_1524+438del
NR_148393.2:n.1306+371_1306+438del
NR_148394.2:n.1199+371_1199+438del
NR_148395.2:n.1458+371_1458+438del
NR_148396.2:n.1092+371_1092+438del
NR_148397.2:n.1356+371_1356+438del
NR_148398.2:n.1311+371_1311+438del
NR_148399.2:n.1698+371_1698+438del
NR_148400.2:n.1297+371_1297+438del