Canonical Allele Identifier: CA2720715572

Gene: POMT1

Linked Data

• dbSNP Id: rs2131770143

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515798_131515803del , CM000671.2:g.131515798_131515803del	GRCh38
NC_000009.11:g.134391185_134391190del , CM000671.1:g.134391185_134391190del	GRCh37
NC_000009.10:g.133381006_133381011del	NCBI36
NG_008896.1:g.17897_17902del
NG_008896.2:g.17897_17902del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1110+276_1110+281del	ENSP00000343034.7:n.1110+276_1110+281del
ENST00000404875.7:n.1812+276_1812+281del
ENST00000423007.6:c.1329+276_1329+281del	ENSP00000404119.2:n.1329+276_1329+281del
ENST00000677295.2:c.*1616+276_*1616+281del	ENSP00000504346.2:n.*1616+276_*1616+281del
ENST00000678264.2:c.*1455+276_*1455+281del	ENSP00000503157.2:n.*1455+276_*1455+281del
ENST00000682070.1:n.1737+276_1737+281del
ENST00000682539.1:c.97+276_97+281del
ENST00000682813.1:n.1537+276_1537+281del
ENST00000683392.1:n.4019+276_4019+281del
ENST00000683712.1:n.1677+276_1677+281del
ENST00000683900.1:n.3172+276_3172+281del
ENST00000684062.1:n.1938+276_1938+281del
ENST00000684579.1:n.3118+276_3118+281del
ENST00000341012.12:c.1110+276_1110+281del	ENSP00000343034.7:n.1110+276_1110+281del
ENST00000372220.5:c.141+276_141+281del	ENSP00000361294.5:n.141+276_141+281del
ENST00000372228.9:c.1338+276_1338+281del	ENSP00000361302.3:n.1338+276_1338+281del
ENST00000402686.8:c.1272+276_1272+281del MANE Select	ENSP00000385797.4:n.1272+276_1272+281del
ENST00000676640.1:c.1272+276_1272+281del	ENSP00000503281.1:n.1272+276_1272+281del
ENST00000676803.1:c.447+276_447+281del	ENSP00000503093.1:n.447+276_447+281del
ENST00000676835.1:c.*487+276_*487+281del	ENSP00000502911.1:n.*487+276_*487+281del
ENST00000677029.1:c.816+276_816+281del	ENSP00000502936.1:n.816+276_816+281del
ENST00000677099.1:c.*982+276_*982+281del	ENSP00000504553.1:n.*982+276_*982+281del
ENST00000677216.1:c.921+276_921+281del	ENSP00000503772.1:n.921+276_921+281del
ENST00000677295.1:c.*649+276_*649+281del	ENSP00000504346.1:n.*649+276_*649+281del
ENST00000677444.1:c.1078+276_1078+281del
ENST00000677586.1:n.753+276_753+281del
ENST00000677626.1:c.921+276_921+281del	ENSP00000503552.1:n.921+276_921+281del
ENST00000677677.1:n.1232+276_1232+281del
ENST00000677853.1:c.*280+276_*280+281del	ENSP00000503488.1:n.*280+276_*280+281del
ENST00000677944.1:c.534+276_534+281del
ENST00000678264.1:c.*649+276_*649+281del	ENSP00000503157.1:n.*649+276_*649+281del
ENST00000678303.1:c.1182+276_1182+281del	ENSP00000503696.1:n.1182+276_1182+281del
ENST00000678366.1:c.*1521+276_*1521+281del	ENSP00000504353.1:n.*1521+276_*1521+281del
ENST00000678546.1:c.*1217+276_*1217+281del	ENSP00000503062.1:n.*1217+276_*1217+281del
ENST00000678548.1:c.*1344+276_*1344+281del	ENSP00000503934.1:n.*1344+276_*1344+281del
ENST00000678626.1:n.969+276_969+281del
ENST00000678733.1:c.353+276_353+281del
ENST00000678739.1:c.*1598+276_*1598+281del	ENSP00000503806.1:n.*1598+276_*1598+281del
ENST00000678795.1:n.359+276_359+281del
ENST00000678833.1:c.*719+276_*719+281del	ENSP00000503893.1:n.*719+276_*719+281del
ENST00000678942.1:c.452+276_452+281del	ENSP00000504690.1:n.452+276_452+281del
ENST00000679023.1:c.1110+276_1110+281del	ENSP00000503718.1:n.1110+276_1110+281del
ENST00000679076.1:c.891+276_891+281del
ENST00000679111.1:c.1272+276_1272+281del	ENSP00000504257.1:n.1272+276_1272+281del
ENST00000679189.1:c.921+276_921+281del	ENSP00000503356.1:n.921+276_921+281del
ENST00000341012.11:c.1110+276_1110+281del	ENSP00000343034.7:n.1110+276_1110+281del
ENST00000372228.7:c.1338+276_1338+281del	ENSP00000361302.3:n.1338+276_1338+281del
ENST00000402686.7:c.1272+276_1272+281del	ENSP00000385797.3:n.1272+276_1272+281del
ENST00000404875.6:c.921+276_921+281del	ENSP00000384531.2:n.921+276_921+281del
ENST00000423007.5:c.1272+276_1272+281del	ENSP00000404119.1:n.1272+276_1272+281del
ENST00000485278.5:n.1827+276_1827+281del
NM_001077365.1:c.1272+276_1272+281del	NP_001070833.1:n.1272+276_1272+281del
NM_001077366.1:c.1110+276_1110+281del	NP_001070834.1:n.1110+276_1110+281del
NM_001136113.1:c.1272+276_1272+281del	NP_001129585.1:n.1272+276_1272+281del
NM_001136114.1:c.921+276_921+281del	NP_001129586.1:n.921+276_921+281del
NM_007171.3:c.1338+276_1338+281del	NP_009102.3:n.1338+276_1338+281del
XM_005272156.1:c.1338+276_1338+281del	XP_005272213.1:n.1338+276_1338+281del
XM_005272158.1:c.1176+276_1176+281del	XP_005272215.1:n.1176+276_1176+281del
XM_005272159.1:c.987+276_987+281del	XP_005272216.1:n.987+276_987+281del
XM_005272162.1:c.141+276_141+281del	XP_005272219.1:n.141+276_141+281del
XM_006716932.1:c.987+276_987+281del	XP_006716995.1:n.987+276_987+281del
XM_011518140.1:c.1191+276_1191+281del	XP_011516442.1:n.1191+276_1191+281del
XM_011518141.1:c.1125+276_1125+281del	XP_011516443.1:n.1125+276_1125+281del
XM_011518142.1:c.1029+276_1029+281del	XP_011516444.1:n.1029+276_1029+281del
XM_011518143.1:c.1023+276_1023+281del	XP_011516445.1:n.1023+276_1023+281del
XM_011518144.1:c.1338+276_1338+281del	XP_011516446.1:n.1338+276_1338+281del
XM_011518145.1:c.882+276_882+281del	XP_011516447.1:n.882+276_882+281del
XM_011518146.1:c.1023+276_1023+281del	XP_011516448.1:n.1023+276_1023+281del
XR_929703.1:n.1514+276_1514+281del
NM_001353193.1:c.1338+276_1338+281del	NP_001340122.1:n.1338+276_1338+281del
NM_001353194.1:c.1110+276_1110+281del	NP_001340123.1:n.1110+276_1110+281del
NM_001353195.1:c.921+276_921+281del	NP_001340124.1:n.921+276_921+281del
NM_001353196.1:c.1182+276_1182+281del	NP_001340125.1:n.1182+276_1182+281del
NM_001353197.1:c.1176+276_1176+281del	NP_001340126.1:n.1176+276_1176+281del
NM_001353198.1:c.1176+276_1176+281del	NP_001340127.1:n.1176+276_1176+281del
NM_001353199.1:c.987+276_987+281del	NP_001340128.1:n.987+276_987+281del
NM_001353200.1:c.816+276_816+281del	NP_001340129.1:n.816+276_816+281del
NR_148391.1:n.1322+276_1322+281del
NR_148392.1:n.1540+276_1540+281del
NR_148393.1:n.1322+276_1322+281del
NR_148394.1:n.1215+276_1215+281del
NR_148395.1:n.1474+276_1474+281del
NR_148396.1:n.1108+276_1108+281del
NR_148397.1:n.1372+276_1372+281del
NR_148398.1:n.1327+276_1327+281del
NR_148399.1:n.1714+276_1714+281del
NR_148400.1:n.1313+276_1313+281del
XM_005272162.3:c.141+276_141+281del	XP_005272219.1:n.141+276_141+281del
XM_006716932.2:c.987+276_987+281del	XP_006716995.1:n.987+276_987+281del
XM_011518140.2:c.1191+276_1191+281del	XP_011516442.1:n.1191+276_1191+281del
XM_011518141.2:c.1125+276_1125+281del	XP_011516443.1:n.1125+276_1125+281del
XM_011518142.2:c.1029+276_1029+281del	XP_011516444.1:n.1029+276_1029+281del
XM_011518143.2:c.1023+276_1023+281del	XP_011516445.1:n.1023+276_1023+281del
XM_011518145.2:c.882+276_882+281del	XP_011516447.1:n.882+276_882+281del
XM_017014205.2:c.141+276_141+281del	XP_016869694.1:n.141+276_141+281del
XM_024447380.1:c.141+276_141+281del	XP_024303148.1:n.141+276_141+281del
XM_024447381.1:c.447+276_447+281del	XP_024303149.1:n.447+276_447+281del
XM_024447382.1:c.141+276_141+281del	XP_024303150.1:n.141+276_141+281del
XR_001746160.2:n.1442+276_1442+281del
XR_001746162.2:n.1508+276_1508+281del
XR_001746164.1:n.1225+276_1225+281del
XR_001746166.2:n.1659+276_1659+281del
NM_001077365.2:c.1272+276_1272+281del MANE Select	NP_001070833.1:n.1272+276_1272+281del
NM_001077366.2:c.1110+276_1110+281del	NP_001070834.1:n.1110+276_1110+281del
NM_001136113.2:c.1272+276_1272+281del	NP_001129585.1:n.1272+276_1272+281del
NM_001136114.2:c.921+276_921+281del	NP_001129586.1:n.921+276_921+281del
NM_001353193.2:c.1338+276_1338+281del	NP_001340122.2:n.1338+276_1338+281del
NM_001353194.2:c.1110+276_1110+281del	NP_001340123.1:n.1110+276_1110+281del
NM_001353195.2:c.921+276_921+281del	NP_001340124.1:n.921+276_921+281del
NM_001353196.2:c.1182+276_1182+281del	NP_001340125.1:n.1182+276_1182+281del
NM_001353197.2:c.1176+276_1176+281del	NP_001340126.2:n.1176+276_1176+281del
NM_001353198.2:c.1176+276_1176+281del	NP_001340127.2:n.1176+276_1176+281del
NM_001353199.2:c.987+276_987+281del	NP_001340128.2:n.987+276_987+281del
NM_001353200.2:c.816+276_816+281del	NP_001340129.1:n.816+276_816+281del
NM_001374689.1:c.1260+276_1260+281del	NP_001361618.1:n.1260+276_1260+281del
NM_001374690.1:c.1272+276_1272+281del	NP_001361619.1:n.1272+276_1272+281del
NM_001374691.1:c.921+276_921+281del	NP_001361620.1:n.921+276_921+281del
NM_001374692.1:c.921+276_921+281del	NP_001361621.1:n.921+276_921+281del
NM_001374693.1:c.921+276_921+281del	NP_001361622.1:n.921+276_921+281del
NM_001374695.1:c.882+276_882+281del	NP_001361624.1:n.882+276_882+281del
NM_007171.4:c.1338+276_1338+281del	NP_009102.4:n.1338+276_1338+281del
NR_148391.2:n.1306+276_1306+281del
NR_148392.2:n.1524+276_1524+281del
NR_148393.2:n.1306+276_1306+281del
NR_148394.2:n.1199+276_1199+281del
NR_148395.2:n.1458+276_1458+281del
NR_148396.2:n.1092+276_1092+281del
NR_148397.2:n.1356+276_1356+281del
NR_148398.2:n.1311+276_1311+281del
NR_148399.2:n.1698+276_1698+281del
NR_148400.2:n.1297+276_1297+281del