Canonical Allele Identifier: CA1129598404

Gene: POMT1

Linked Data

• gnomAD v3: 9-131515925-T-TCTAA
• gnomAD v4: 9-131515925-T-TCTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515926_131515927insTAAC , CM000671.2:g.131515926_131515927insTAAC	GRCh38
NC_000009.11:g.134391313_134391314insTAAC , CM000671.1:g.134391313_134391314insTAAC	GRCh37
NC_000009.10:g.133381134_133381135insTAAC	NCBI36
NG_008896.1:g.18025_18026insTAAC
NG_008896.2:g.18025_18026insTAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1110+404_1110+405insTAAC	ENSP00000343034.7:n.1110+404_1110+405insTAAC
ENST00000404875.7:n.1812+404_1812+405insTAAC
ENST00000423007.6:c.1329+404_1329+405insTAAC	ENSP00000404119.2:n.1329+404_1329+405insTAAC
ENST00000677295.2:c.*1616+404_*1616+405insTAAC	ENSP00000504346.2:n.*1616+404_*1616+405insTAAC
ENST00000678264.2:c.*1455+404_*1455+405insTAAC	ENSP00000503157.2:n.*1455+404_*1455+405insTAAC
ENST00000682070.1:n.1737+404_1737+405insTAAC
ENST00000682539.1:c.97+404_97+405insTAAC
ENST00000682813.1:n.1537+404_1537+405insTAAC
ENST00000683392.1:n.4019+404_4019+405insTAAC
ENST00000683712.1:n.1677+404_1677+405insTAAC
ENST00000683900.1:n.3172+404_3172+405insTAAC
ENST00000684062.1:n.1938+404_1938+405insTAAC
ENST00000684579.1:n.3118+404_3118+405insTAAC
ENST00000341012.12:c.1110+404_1110+405insTAAC	ENSP00000343034.7:n.1110+404_1110+405insTAAC
ENST00000372220.5:c.141+404_141+405insTAAC	ENSP00000361294.5:n.141+404_141+405insTAAC
ENST00000372228.9:c.1338+404_1338+405insTAAC	ENSP00000361302.3:n.1338+404_1338+405insTAAC
ENST00000402686.8:c.1272+404_1272+405insTAAC MANE Select	ENSP00000385797.4:n.1272+404_1272+405insTAAC
ENST00000676640.1:c.1272+404_1272+405insTAAC	ENSP00000503281.1:n.1272+404_1272+405insTAAC
ENST00000676803.1:c.447+404_447+405insTAAC	ENSP00000503093.1:n.447+404_447+405insTAAC
ENST00000676835.1:c.*487+404_*487+405insTAAC	ENSP00000502911.1:n.*487+404_*487+405insTAAC
ENST00000677029.1:c.816+404_816+405insTAAC	ENSP00000502936.1:n.816+404_816+405insTAAC
ENST00000677099.1:c.*982+404_*982+405insTAAC	ENSP00000504553.1:n.*982+404_*982+405insTAAC
ENST00000677216.1:c.921+404_921+405insTAAC	ENSP00000503772.1:n.921+404_921+405insTAAC
ENST00000677295.1:c.*649+404_*649+405insTAAC	ENSP00000504346.1:n.*649+404_*649+405insTAAC
ENST00000677444.1:c.1078+404_1078+405insTAAC
ENST00000677586.1:n.753+404_753+405insTAAC
ENST00000677626.1:c.921+404_921+405insTAAC	ENSP00000503552.1:n.921+404_921+405insTAAC
ENST00000677677.1:n.1232+404_1232+405insTAAC
ENST00000677853.1:c.*280+404_*280+405insTAAC	ENSP00000503488.1:n.*280+404_*280+405insTAAC
ENST00000677944.1:c.534+404_534+405insTAAC
ENST00000678264.1:c.*649+404_*649+405insTAAC	ENSP00000503157.1:n.*649+404_*649+405insTAAC
ENST00000678303.1:c.1182+404_1182+405insTAAC	ENSP00000503696.1:n.1182+404_1182+405insTAAC
ENST00000678366.1:c.*1521+404_*1521+405insTAAC	ENSP00000504353.1:n.*1521+404_*1521+405insTAAC
ENST00000678546.1:c.*1217+404_*1217+405insTAAC	ENSP00000503062.1:n.*1217+404_*1217+405insTAAC
ENST00000678548.1:c.*1344+404_*1344+405insTAAC	ENSP00000503934.1:n.*1344+404_*1344+405insTAAC
ENST00000678626.1:n.969+404_969+405insTAAC
ENST00000678733.1:c.353+404_353+405insTAAC
ENST00000678739.1:c.*1598+404_*1598+405insTAAC	ENSP00000503806.1:n.*1598+404_*1598+405insTAAC
ENST00000678795.1:n.359+404_359+405insTAAC
ENST00000678833.1:c.*719+404_*719+405insTAAC	ENSP00000503893.1:n.*719+404_*719+405insTAAC
ENST00000678942.1:c.452+404_452+405insTAAC	ENSP00000504690.1:n.452+404_452+405insTAAC
ENST00000679023.1:c.1110+404_1110+405insTAAC	ENSP00000503718.1:n.1110+404_1110+405insTAAC
ENST00000679076.1:c.891+404_891+405insTAAC
ENST00000679111.1:c.1272+404_1272+405insTAAC	ENSP00000504257.1:n.1272+404_1272+405insTAAC
ENST00000679189.1:c.921+404_921+405insTAAC	ENSP00000503356.1:n.921+404_921+405insTAAC
ENST00000341012.11:c.1110+404_1110+405insTAAC	ENSP00000343034.7:n.1110+404_1110+405insTAAC
ENST00000372228.7:c.1338+404_1338+405insTAAC	ENSP00000361302.3:n.1338+404_1338+405insTAAC
ENST00000402686.7:c.1272+404_1272+405insTAAC	ENSP00000385797.3:n.1272+404_1272+405insTAAC
ENST00000404875.6:c.921+404_921+405insTAAC	ENSP00000384531.2:n.921+404_921+405insTAAC
ENST00000423007.5:c.1272+404_1272+405insTAAC	ENSP00000404119.1:n.1272+404_1272+405insTAAC
ENST00000485278.5:n.1827+404_1827+405insTAAC
NM_001077365.1:c.1272+404_1272+405insTAAC	NP_001070833.1:n.1272+404_1272+405insTAAC
NM_001077366.1:c.1110+404_1110+405insTAAC	NP_001070834.1:n.1110+404_1110+405insTAAC
NM_001136113.1:c.1272+404_1272+405insTAAC	NP_001129585.1:n.1272+404_1272+405insTAAC
NM_001136114.1:c.921+404_921+405insTAAC	NP_001129586.1:n.921+404_921+405insTAAC
NM_007171.3:c.1338+404_1338+405insTAAC	NP_009102.3:n.1338+404_1338+405insTAAC
XM_005272156.1:c.1338+404_1338+405insTAAC	XP_005272213.1:n.1338+404_1338+405insTAAC
XM_005272158.1:c.1176+404_1176+405insTAAC	XP_005272215.1:n.1176+404_1176+405insTAAC
XM_005272159.1:c.987+404_987+405insTAAC	XP_005272216.1:n.987+404_987+405insTAAC
XM_005272162.1:c.141+404_141+405insTAAC	XP_005272219.1:n.141+404_141+405insTAAC
XM_006716932.1:c.987+404_987+405insTAAC	XP_006716995.1:n.987+404_987+405insTAAC
XM_011518140.1:c.1191+404_1191+405insTAAC	XP_011516442.1:n.1191+404_1191+405insTAAC
XM_011518141.1:c.1125+404_1125+405insTAAC	XP_011516443.1:n.1125+404_1125+405insTAAC
XM_011518142.1:c.1029+404_1029+405insTAAC	XP_011516444.1:n.1029+404_1029+405insTAAC
XM_011518143.1:c.1023+404_1023+405insTAAC	XP_011516445.1:n.1023+404_1023+405insTAAC
XM_011518144.1:c.1338+404_1338+405insTAAC	XP_011516446.1:n.1338+404_1338+405insTAAC
XM_011518145.1:c.882+404_882+405insTAAC	XP_011516447.1:n.882+404_882+405insTAAC
XM_011518146.1:c.1023+404_1023+405insTAAC	XP_011516448.1:n.1023+404_1023+405insTAAC
XR_929703.1:n.1514+404_1514+405insTAAC
NM_001353193.1:c.1338+404_1338+405insTAAC	NP_001340122.1:n.1338+404_1338+405insTAAC
NM_001353194.1:c.1110+404_1110+405insTAAC	NP_001340123.1:n.1110+404_1110+405insTAAC
NM_001353195.1:c.921+404_921+405insTAAC	NP_001340124.1:n.921+404_921+405insTAAC
NM_001353196.1:c.1182+404_1182+405insTAAC	NP_001340125.1:n.1182+404_1182+405insTAAC
NM_001353197.1:c.1176+404_1176+405insTAAC	NP_001340126.1:n.1176+404_1176+405insTAAC
NM_001353198.1:c.1176+404_1176+405insTAAC	NP_001340127.1:n.1176+404_1176+405insTAAC
NM_001353199.1:c.987+404_987+405insTAAC	NP_001340128.1:n.987+404_987+405insTAAC
NM_001353200.1:c.816+404_816+405insTAAC	NP_001340129.1:n.816+404_816+405insTAAC
NR_148391.1:n.1322+404_1322+405insTAAC
NR_148392.1:n.1540+404_1540+405insTAAC
NR_148393.1:n.1322+404_1322+405insTAAC
NR_148394.1:n.1215+404_1215+405insTAAC
NR_148395.1:n.1474+404_1474+405insTAAC
NR_148396.1:n.1108+404_1108+405insTAAC
NR_148397.1:n.1372+404_1372+405insTAAC
NR_148398.1:n.1327+404_1327+405insTAAC
NR_148399.1:n.1714+404_1714+405insTAAC
NR_148400.1:n.1313+404_1313+405insTAAC
XM_005272162.3:c.141+404_141+405insTAAC	XP_005272219.1:n.141+404_141+405insTAAC
XM_006716932.2:c.987+404_987+405insTAAC	XP_006716995.1:n.987+404_987+405insTAAC
XM_011518140.2:c.1191+404_1191+405insTAAC	XP_011516442.1:n.1191+404_1191+405insTAAC
XM_011518141.2:c.1125+404_1125+405insTAAC	XP_011516443.1:n.1125+404_1125+405insTAAC
XM_011518142.2:c.1029+404_1029+405insTAAC	XP_011516444.1:n.1029+404_1029+405insTAAC
XM_011518143.2:c.1023+404_1023+405insTAAC	XP_011516445.1:n.1023+404_1023+405insTAAC
XM_011518145.2:c.882+404_882+405insTAAC	XP_011516447.1:n.882+404_882+405insTAAC
XM_017014205.2:c.141+404_141+405insTAAC	XP_016869694.1:n.141+404_141+405insTAAC
XM_024447380.1:c.141+404_141+405insTAAC	XP_024303148.1:n.141+404_141+405insTAAC
XM_024447381.1:c.447+404_447+405insTAAC	XP_024303149.1:n.447+404_447+405insTAAC
XM_024447382.1:c.141+404_141+405insTAAC	XP_024303150.1:n.141+404_141+405insTAAC
XR_001746160.2:n.1442+404_1442+405insTAAC
XR_001746162.2:n.1508+404_1508+405insTAAC
XR_001746164.1:n.1225+404_1225+405insTAAC
XR_001746166.2:n.1659+404_1659+405insTAAC
NM_001077365.2:c.1272+404_1272+405insTAAC MANE Select	NP_001070833.1:n.1272+404_1272+405insTAAC
NM_001077366.2:c.1110+404_1110+405insTAAC	NP_001070834.1:n.1110+404_1110+405insTAAC
NM_001136113.2:c.1272+404_1272+405insTAAC	NP_001129585.1:n.1272+404_1272+405insTAAC
NM_001136114.2:c.921+404_921+405insTAAC	NP_001129586.1:n.921+404_921+405insTAAC
NM_001353193.2:c.1338+404_1338+405insTAAC	NP_001340122.2:n.1338+404_1338+405insTAAC
NM_001353194.2:c.1110+404_1110+405insTAAC	NP_001340123.1:n.1110+404_1110+405insTAAC
NM_001353195.2:c.921+404_921+405insTAAC	NP_001340124.1:n.921+404_921+405insTAAC
NM_001353196.2:c.1182+404_1182+405insTAAC	NP_001340125.1:n.1182+404_1182+405insTAAC
NM_001353197.2:c.1176+404_1176+405insTAAC	NP_001340126.2:n.1176+404_1176+405insTAAC
NM_001353198.2:c.1176+404_1176+405insTAAC	NP_001340127.2:n.1176+404_1176+405insTAAC
NM_001353199.2:c.987+404_987+405insTAAC	NP_001340128.2:n.987+404_987+405insTAAC
NM_001353200.2:c.816+404_816+405insTAAC	NP_001340129.1:n.816+404_816+405insTAAC
NM_001374689.1:c.1260+404_1260+405insTAAC	NP_001361618.1:n.1260+404_1260+405insTAAC
NM_001374690.1:c.1272+404_1272+405insTAAC	NP_001361619.1:n.1272+404_1272+405insTAAC
NM_001374691.1:c.921+404_921+405insTAAC	NP_001361620.1:n.921+404_921+405insTAAC
NM_001374692.1:c.921+404_921+405insTAAC	NP_001361621.1:n.921+404_921+405insTAAC
NM_001374693.1:c.921+404_921+405insTAAC	NP_001361622.1:n.921+404_921+405insTAAC
NM_001374695.1:c.882+404_882+405insTAAC	NP_001361624.1:n.882+404_882+405insTAAC
NM_007171.4:c.1338+404_1338+405insTAAC	NP_009102.4:n.1338+404_1338+405insTAAC
NR_148391.2:n.1306+404_1306+405insTAAC
NR_148392.2:n.1524+404_1524+405insTAAC
NR_148393.2:n.1306+404_1306+405insTAAC
NR_148394.2:n.1199+404_1199+405insTAAC
NR_148395.2:n.1458+404_1458+405insTAAC
NR_148396.2:n.1092+404_1092+405insTAAC
NR_148397.2:n.1356+404_1356+405insTAAC
NR_148398.2:n.1311+404_1311+405insTAAC
NR_148399.2:n.1698+404_1698+405insTAAC
NR_148400.2:n.1297+404_1297+405insTAAC