Canonical Allele Identifier: CA1881757907

Gene: POMT1

Linked Data

• dbSNP Id: rs1948356995

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515895_131515896del , CM000671.2:g.131515895_131515896del	GRCh38
NC_000009.11:g.134391282_134391283del , CM000671.1:g.134391282_134391283del	GRCh37
NC_000009.10:g.133381103_133381104del	NCBI36
NG_008896.1:g.17994_17995del
NG_008896.2:g.17994_17995del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1110+373_1110+374del	ENSP00000343034.7:n.1110+373_1110+374del
ENST00000404875.7:n.1812+373_1812+374del
ENST00000423007.6:c.1329+373_1329+374del	ENSP00000404119.2:n.1329+373_1329+374del
ENST00000677295.2:c.*1616+373_*1616+374del	ENSP00000504346.2:n.*1616+373_*1616+374del
ENST00000678264.2:c.*1455+373_*1455+374del	ENSP00000503157.2:n.*1455+373_*1455+374del
ENST00000682070.1:n.1737+373_1737+374del
ENST00000682539.1:c.97+373_97+374del
ENST00000682813.1:n.1537+373_1537+374del
ENST00000683392.1:n.4019+373_4019+374del
ENST00000683712.1:n.1677+373_1677+374del
ENST00000683900.1:n.3172+373_3172+374del
ENST00000684062.1:n.1938+373_1938+374del
ENST00000684579.1:n.3118+373_3118+374del
ENST00000341012.12:c.1110+373_1110+374del	ENSP00000343034.7:n.1110+373_1110+374del
ENST00000372220.5:c.141+373_141+374del	ENSP00000361294.5:n.141+373_141+374del
ENST00000372228.9:c.1338+373_1338+374del	ENSP00000361302.3:n.1338+373_1338+374del
ENST00000402686.8:c.1272+373_1272+374del MANE Select	ENSP00000385797.4:n.1272+373_1272+374del
ENST00000676640.1:c.1272+373_1272+374del	ENSP00000503281.1:n.1272+373_1272+374del
ENST00000676803.1:c.447+373_447+374del	ENSP00000503093.1:n.447+373_447+374del
ENST00000676835.1:c.*487+373_*487+374del	ENSP00000502911.1:n.*487+373_*487+374del
ENST00000677029.1:c.816+373_816+374del	ENSP00000502936.1:n.816+373_816+374del
ENST00000677099.1:c.*982+373_*982+374del	ENSP00000504553.1:n.*982+373_*982+374del
ENST00000677216.1:c.921+373_921+374del	ENSP00000503772.1:n.921+373_921+374del
ENST00000677295.1:c.*649+373_*649+374del	ENSP00000504346.1:n.*649+373_*649+374del
ENST00000677444.1:c.1078+373_1078+374del
ENST00000677586.1:n.753+373_753+374del
ENST00000677626.1:c.921+373_921+374del	ENSP00000503552.1:n.921+373_921+374del
ENST00000677677.1:n.1232+373_1232+374del
ENST00000677853.1:c.*280+373_*280+374del	ENSP00000503488.1:n.*280+373_*280+374del
ENST00000677944.1:c.534+373_534+374del
ENST00000678264.1:c.*649+373_*649+374del	ENSP00000503157.1:n.*649+373_*649+374del
ENST00000678303.1:c.1182+373_1182+374del	ENSP00000503696.1:n.1182+373_1182+374del
ENST00000678366.1:c.*1521+373_*1521+374del	ENSP00000504353.1:n.*1521+373_*1521+374del
ENST00000678546.1:c.*1217+373_*1217+374del	ENSP00000503062.1:n.*1217+373_*1217+374del
ENST00000678548.1:c.*1344+373_*1344+374del	ENSP00000503934.1:n.*1344+373_*1344+374del
ENST00000678626.1:n.969+373_969+374del
ENST00000678733.1:c.353+373_353+374del
ENST00000678739.1:c.*1598+373_*1598+374del	ENSP00000503806.1:n.*1598+373_*1598+374del
ENST00000678795.1:n.359+373_359+374del
ENST00000678833.1:c.*719+373_*719+374del	ENSP00000503893.1:n.*719+373_*719+374del
ENST00000678942.1:c.452+373_452+374del	ENSP00000504690.1:n.452+373_452+374del
ENST00000679023.1:c.1110+373_1110+374del	ENSP00000503718.1:n.1110+373_1110+374del
ENST00000679076.1:c.891+373_891+374del
ENST00000679111.1:c.1272+373_1272+374del	ENSP00000504257.1:n.1272+373_1272+374del
ENST00000679189.1:c.921+373_921+374del	ENSP00000503356.1:n.921+373_921+374del
ENST00000341012.11:c.1110+373_1110+374del	ENSP00000343034.7:n.1110+373_1110+374del
ENST00000372228.7:c.1338+373_1338+374del	ENSP00000361302.3:n.1338+373_1338+374del
ENST00000402686.7:c.1272+373_1272+374del	ENSP00000385797.3:n.1272+373_1272+374del
ENST00000404875.6:c.921+373_921+374del	ENSP00000384531.2:n.921+373_921+374del
ENST00000423007.5:c.1272+373_1272+374del	ENSP00000404119.1:n.1272+373_1272+374del
ENST00000485278.5:n.1827+373_1827+374del
NM_001077365.1:c.1272+373_1272+374del	NP_001070833.1:n.1272+373_1272+374del
NM_001077366.1:c.1110+373_1110+374del	NP_001070834.1:n.1110+373_1110+374del
NM_001136113.1:c.1272+373_1272+374del	NP_001129585.1:n.1272+373_1272+374del
NM_001136114.1:c.921+373_921+374del	NP_001129586.1:n.921+373_921+374del
NM_007171.3:c.1338+373_1338+374del	NP_009102.3:n.1338+373_1338+374del
XM_005272156.1:c.1338+373_1338+374del	XP_005272213.1:n.1338+373_1338+374del
XM_005272158.1:c.1176+373_1176+374del	XP_005272215.1:n.1176+373_1176+374del
XM_005272159.1:c.987+373_987+374del	XP_005272216.1:n.987+373_987+374del
XM_005272162.1:c.141+373_141+374del	XP_005272219.1:n.141+373_141+374del
XM_006716932.1:c.987+373_987+374del	XP_006716995.1:n.987+373_987+374del
XM_011518140.1:c.1191+373_1191+374del	XP_011516442.1:n.1191+373_1191+374del
XM_011518141.1:c.1125+373_1125+374del	XP_011516443.1:n.1125+373_1125+374del
XM_011518142.1:c.1029+373_1029+374del	XP_011516444.1:n.1029+373_1029+374del
XM_011518143.1:c.1023+373_1023+374del	XP_011516445.1:n.1023+373_1023+374del
XM_011518144.1:c.1338+373_1338+374del	XP_011516446.1:n.1338+373_1338+374del
XM_011518145.1:c.882+373_882+374del	XP_011516447.1:n.882+373_882+374del
XM_011518146.1:c.1023+373_1023+374del	XP_011516448.1:n.1023+373_1023+374del
XR_929703.1:n.1514+373_1514+374del
NM_001353193.1:c.1338+373_1338+374del	NP_001340122.1:n.1338+373_1338+374del
NM_001353194.1:c.1110+373_1110+374del	NP_001340123.1:n.1110+373_1110+374del
NM_001353195.1:c.921+373_921+374del	NP_001340124.1:n.921+373_921+374del
NM_001353196.1:c.1182+373_1182+374del	NP_001340125.1:n.1182+373_1182+374del
NM_001353197.1:c.1176+373_1176+374del	NP_001340126.1:n.1176+373_1176+374del
NM_001353198.1:c.1176+373_1176+374del	NP_001340127.1:n.1176+373_1176+374del
NM_001353199.1:c.987+373_987+374del	NP_001340128.1:n.987+373_987+374del
NM_001353200.1:c.816+373_816+374del	NP_001340129.1:n.816+373_816+374del
NR_148391.1:n.1322+373_1322+374del
NR_148392.1:n.1540+373_1540+374del
NR_148393.1:n.1322+373_1322+374del
NR_148394.1:n.1215+373_1215+374del
NR_148395.1:n.1474+373_1474+374del
NR_148396.1:n.1108+373_1108+374del
NR_148397.1:n.1372+373_1372+374del
NR_148398.1:n.1327+373_1327+374del
NR_148399.1:n.1714+373_1714+374del
NR_148400.1:n.1313+373_1313+374del
XM_005272162.3:c.141+373_141+374del	XP_005272219.1:n.141+373_141+374del
XM_006716932.2:c.987+373_987+374del	XP_006716995.1:n.987+373_987+374del
XM_011518140.2:c.1191+373_1191+374del	XP_011516442.1:n.1191+373_1191+374del
XM_011518141.2:c.1125+373_1125+374del	XP_011516443.1:n.1125+373_1125+374del
XM_011518142.2:c.1029+373_1029+374del	XP_011516444.1:n.1029+373_1029+374del
XM_011518143.2:c.1023+373_1023+374del	XP_011516445.1:n.1023+373_1023+374del
XM_011518145.2:c.882+373_882+374del	XP_011516447.1:n.882+373_882+374del
XM_017014205.2:c.141+373_141+374del	XP_016869694.1:n.141+373_141+374del
XM_024447380.1:c.141+373_141+374del	XP_024303148.1:n.141+373_141+374del
XM_024447381.1:c.447+373_447+374del	XP_024303149.1:n.447+373_447+374del
XM_024447382.1:c.141+373_141+374del	XP_024303150.1:n.141+373_141+374del
XR_001746160.2:n.1442+373_1442+374del
XR_001746162.2:n.1508+373_1508+374del
XR_001746164.1:n.1225+373_1225+374del
XR_001746166.2:n.1659+373_1659+374del
NM_001077365.2:c.1272+373_1272+374del MANE Select	NP_001070833.1:n.1272+373_1272+374del
NM_001077366.2:c.1110+373_1110+374del	NP_001070834.1:n.1110+373_1110+374del
NM_001136113.2:c.1272+373_1272+374del	NP_001129585.1:n.1272+373_1272+374del
NM_001136114.2:c.921+373_921+374del	NP_001129586.1:n.921+373_921+374del
NM_001353193.2:c.1338+373_1338+374del	NP_001340122.2:n.1338+373_1338+374del
NM_001353194.2:c.1110+373_1110+374del	NP_001340123.1:n.1110+373_1110+374del
NM_001353195.2:c.921+373_921+374del	NP_001340124.1:n.921+373_921+374del
NM_001353196.2:c.1182+373_1182+374del	NP_001340125.1:n.1182+373_1182+374del
NM_001353197.2:c.1176+373_1176+374del	NP_001340126.2:n.1176+373_1176+374del
NM_001353198.2:c.1176+373_1176+374del	NP_001340127.2:n.1176+373_1176+374del
NM_001353199.2:c.987+373_987+374del	NP_001340128.2:n.987+373_987+374del
NM_001353200.2:c.816+373_816+374del	NP_001340129.1:n.816+373_816+374del
NM_001374689.1:c.1260+373_1260+374del	NP_001361618.1:n.1260+373_1260+374del
NM_001374690.1:c.1272+373_1272+374del	NP_001361619.1:n.1272+373_1272+374del
NM_001374691.1:c.921+373_921+374del	NP_001361620.1:n.921+373_921+374del
NM_001374692.1:c.921+373_921+374del	NP_001361621.1:n.921+373_921+374del
NM_001374693.1:c.921+373_921+374del	NP_001361622.1:n.921+373_921+374del
NM_001374695.1:c.882+373_882+374del	NP_001361624.1:n.882+373_882+374del
NM_007171.4:c.1338+373_1338+374del	NP_009102.4:n.1338+373_1338+374del
NR_148391.2:n.1306+373_1306+374del
NR_148392.2:n.1524+373_1524+374del
NR_148393.2:n.1306+373_1306+374del
NR_148394.2:n.1199+373_1199+374del
NR_148395.2:n.1458+373_1458+374del
NR_148396.2:n.1092+373_1092+374del
NR_148397.2:n.1356+373_1356+374del
NR_148398.2:n.1311+373_1311+374del
NR_148399.2:n.1698+373_1698+374del
NR_148400.2:n.1297+373_1297+374del