Canonical Allele Identifier: CA1129598117

Gene: POMT1

Linked Data

• gnomAD v3: 9-131515857-ACAGGGAGCACTTTCTCT-A
• gnomAD v4: 9-131515857-ACAGGGAGCACTTTCTCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515858_131515874del , CM000671.2:g.131515858_131515874del	GRCh38
NC_000009.11:g.134391245_134391261del , CM000671.1:g.134391245_134391261del	GRCh37
NC_000009.10:g.133381066_133381082del	NCBI36
NG_008896.1:g.17957_17973del
NG_008896.2:g.17957_17973del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1110+336_1110+352del	ENSP00000343034.7:n.1110+336_1110+352del
ENST00000404875.7:n.1812+336_1812+352del
ENST00000423007.6:c.1329+336_1329+352del	ENSP00000404119.2:n.1329+336_1329+352del
ENST00000677295.2:c.*1616+336_*1616+352del	ENSP00000504346.2:n.*1616+336_*1616+352del
ENST00000678264.2:c.*1455+336_*1455+352del	ENSP00000503157.2:n.*1455+336_*1455+352del
ENST00000682070.1:n.1737+336_1737+352del
ENST00000682539.1:c.97+336_97+352del
ENST00000682813.1:n.1537+336_1537+352del
ENST00000683392.1:n.4019+336_4019+352del
ENST00000683712.1:n.1677+336_1677+352del
ENST00000683900.1:n.3172+336_3172+352del
ENST00000684062.1:n.1938+336_1938+352del
ENST00000684579.1:n.3118+336_3118+352del
ENST00000341012.12:c.1110+336_1110+352del	ENSP00000343034.7:n.1110+336_1110+352del
ENST00000372220.5:c.141+336_141+352del	ENSP00000361294.5:n.141+336_141+352del
ENST00000372228.9:c.1338+336_1338+352del	ENSP00000361302.3:n.1338+336_1338+352del
ENST00000402686.8:c.1272+336_1272+352del MANE Select	ENSP00000385797.4:n.1272+336_1272+352del
ENST00000676640.1:c.1272+336_1272+352del	ENSP00000503281.1:n.1272+336_1272+352del
ENST00000676803.1:c.447+336_447+352del	ENSP00000503093.1:n.447+336_447+352del
ENST00000676835.1:c.*487+336_*487+352del	ENSP00000502911.1:n.*487+336_*487+352del
ENST00000677029.1:c.816+336_816+352del	ENSP00000502936.1:n.816+336_816+352del
ENST00000677099.1:c.*982+336_*982+352del	ENSP00000504553.1:n.*982+336_*982+352del
ENST00000677216.1:c.921+336_921+352del	ENSP00000503772.1:n.921+336_921+352del
ENST00000677295.1:c.*649+336_*649+352del	ENSP00000504346.1:n.*649+336_*649+352del
ENST00000677444.1:c.1078+336_1078+352del
ENST00000677586.1:n.753+336_753+352del
ENST00000677626.1:c.921+336_921+352del	ENSP00000503552.1:n.921+336_921+352del
ENST00000677677.1:n.1232+336_1232+352del
ENST00000677853.1:c.*280+336_*280+352del	ENSP00000503488.1:n.*280+336_*280+352del
ENST00000677944.1:c.534+336_534+352del
ENST00000678264.1:c.*649+336_*649+352del	ENSP00000503157.1:n.*649+336_*649+352del
ENST00000678303.1:c.1182+336_1182+352del	ENSP00000503696.1:n.1182+336_1182+352del
ENST00000678366.1:c.*1521+336_*1521+352del	ENSP00000504353.1:n.*1521+336_*1521+352del
ENST00000678546.1:c.*1217+336_*1217+352del	ENSP00000503062.1:n.*1217+336_*1217+352del
ENST00000678548.1:c.*1344+336_*1344+352del	ENSP00000503934.1:n.*1344+336_*1344+352del
ENST00000678626.1:n.969+336_969+352del
ENST00000678733.1:c.353+336_353+352del
ENST00000678739.1:c.*1598+336_*1598+352del	ENSP00000503806.1:n.*1598+336_*1598+352del
ENST00000678795.1:n.359+336_359+352del
ENST00000678833.1:c.*719+336_*719+352del	ENSP00000503893.1:n.*719+336_*719+352del
ENST00000678942.1:c.452+336_452+352del	ENSP00000504690.1:n.452+336_452+352del
ENST00000679023.1:c.1110+336_1110+352del	ENSP00000503718.1:n.1110+336_1110+352del
ENST00000679076.1:c.891+336_891+352del
ENST00000679111.1:c.1272+336_1272+352del	ENSP00000504257.1:n.1272+336_1272+352del
ENST00000679189.1:c.921+336_921+352del	ENSP00000503356.1:n.921+336_921+352del
ENST00000341012.11:c.1110+336_1110+352del	ENSP00000343034.7:n.1110+336_1110+352del
ENST00000372228.7:c.1338+336_1338+352del	ENSP00000361302.3:n.1338+336_1338+352del
ENST00000402686.7:c.1272+336_1272+352del	ENSP00000385797.3:n.1272+336_1272+352del
ENST00000404875.6:c.921+336_921+352del	ENSP00000384531.2:n.921+336_921+352del
ENST00000423007.5:c.1272+336_1272+352del	ENSP00000404119.1:n.1272+336_1272+352del
ENST00000485278.5:n.1827+336_1827+352del
NM_001077365.1:c.1272+336_1272+352del	NP_001070833.1:n.1272+336_1272+352del
NM_001077366.1:c.1110+336_1110+352del	NP_001070834.1:n.1110+336_1110+352del
NM_001136113.1:c.1272+336_1272+352del	NP_001129585.1:n.1272+336_1272+352del
NM_001136114.1:c.921+336_921+352del	NP_001129586.1:n.921+336_921+352del
NM_007171.3:c.1338+336_1338+352del	NP_009102.3:n.1338+336_1338+352del
XM_005272156.1:c.1338+336_1338+352del	XP_005272213.1:n.1338+336_1338+352del
XM_005272158.1:c.1176+336_1176+352del	XP_005272215.1:n.1176+336_1176+352del
XM_005272159.1:c.987+336_987+352del	XP_005272216.1:n.987+336_987+352del
XM_005272162.1:c.141+336_141+352del	XP_005272219.1:n.141+336_141+352del
XM_006716932.1:c.987+336_987+352del	XP_006716995.1:n.987+336_987+352del
XM_011518140.1:c.1191+336_1191+352del	XP_011516442.1:n.1191+336_1191+352del
XM_011518141.1:c.1125+336_1125+352del	XP_011516443.1:n.1125+336_1125+352del
XM_011518142.1:c.1029+336_1029+352del	XP_011516444.1:n.1029+336_1029+352del
XM_011518143.1:c.1023+336_1023+352del	XP_011516445.1:n.1023+336_1023+352del
XM_011518144.1:c.1338+336_1338+352del	XP_011516446.1:n.1338+336_1338+352del
XM_011518145.1:c.882+336_882+352del	XP_011516447.1:n.882+336_882+352del
XM_011518146.1:c.1023+336_1023+352del	XP_011516448.1:n.1023+336_1023+352del
XR_929703.1:n.1514+336_1514+352del
NM_001353193.1:c.1338+336_1338+352del	NP_001340122.1:n.1338+336_1338+352del
NM_001353194.1:c.1110+336_1110+352del	NP_001340123.1:n.1110+336_1110+352del
NM_001353195.1:c.921+336_921+352del	NP_001340124.1:n.921+336_921+352del
NM_001353196.1:c.1182+336_1182+352del	NP_001340125.1:n.1182+336_1182+352del
NM_001353197.1:c.1176+336_1176+352del	NP_001340126.1:n.1176+336_1176+352del
NM_001353198.1:c.1176+336_1176+352del	NP_001340127.1:n.1176+336_1176+352del
NM_001353199.1:c.987+336_987+352del	NP_001340128.1:n.987+336_987+352del
NM_001353200.1:c.816+336_816+352del	NP_001340129.1:n.816+336_816+352del
NR_148391.1:n.1322+336_1322+352del
NR_148392.1:n.1540+336_1540+352del
NR_148393.1:n.1322+336_1322+352del
NR_148394.1:n.1215+336_1215+352del
NR_148395.1:n.1474+336_1474+352del
NR_148396.1:n.1108+336_1108+352del
NR_148397.1:n.1372+336_1372+352del
NR_148398.1:n.1327+336_1327+352del
NR_148399.1:n.1714+336_1714+352del
NR_148400.1:n.1313+336_1313+352del
XM_005272162.3:c.141+336_141+352del	XP_005272219.1:n.141+336_141+352del
XM_006716932.2:c.987+336_987+352del	XP_006716995.1:n.987+336_987+352del
XM_011518140.2:c.1191+336_1191+352del	XP_011516442.1:n.1191+336_1191+352del
XM_011518141.2:c.1125+336_1125+352del	XP_011516443.1:n.1125+336_1125+352del
XM_011518142.2:c.1029+336_1029+352del	XP_011516444.1:n.1029+336_1029+352del
XM_011518143.2:c.1023+336_1023+352del	XP_011516445.1:n.1023+336_1023+352del
XM_011518145.2:c.882+336_882+352del	XP_011516447.1:n.882+336_882+352del
XM_017014205.2:c.141+336_141+352del	XP_016869694.1:n.141+336_141+352del
XM_024447380.1:c.141+336_141+352del	XP_024303148.1:n.141+336_141+352del
XM_024447381.1:c.447+336_447+352del	XP_024303149.1:n.447+336_447+352del
XM_024447382.1:c.141+336_141+352del	XP_024303150.1:n.141+336_141+352del
XR_001746160.2:n.1442+336_1442+352del
XR_001746162.2:n.1508+336_1508+352del
XR_001746164.1:n.1225+336_1225+352del
XR_001746166.2:n.1659+336_1659+352del
NM_001077365.2:c.1272+336_1272+352del MANE Select	NP_001070833.1:n.1272+336_1272+352del
NM_001077366.2:c.1110+336_1110+352del	NP_001070834.1:n.1110+336_1110+352del
NM_001136113.2:c.1272+336_1272+352del	NP_001129585.1:n.1272+336_1272+352del
NM_001136114.2:c.921+336_921+352del	NP_001129586.1:n.921+336_921+352del
NM_001353193.2:c.1338+336_1338+352del	NP_001340122.2:n.1338+336_1338+352del
NM_001353194.2:c.1110+336_1110+352del	NP_001340123.1:n.1110+336_1110+352del
NM_001353195.2:c.921+336_921+352del	NP_001340124.1:n.921+336_921+352del
NM_001353196.2:c.1182+336_1182+352del	NP_001340125.1:n.1182+336_1182+352del
NM_001353197.2:c.1176+336_1176+352del	NP_001340126.2:n.1176+336_1176+352del
NM_001353198.2:c.1176+336_1176+352del	NP_001340127.2:n.1176+336_1176+352del
NM_001353199.2:c.987+336_987+352del	NP_001340128.2:n.987+336_987+352del
NM_001353200.2:c.816+336_816+352del	NP_001340129.1:n.816+336_816+352del
NM_001374689.1:c.1260+336_1260+352del	NP_001361618.1:n.1260+336_1260+352del
NM_001374690.1:c.1272+336_1272+352del	NP_001361619.1:n.1272+336_1272+352del
NM_001374691.1:c.921+336_921+352del	NP_001361620.1:n.921+336_921+352del
NM_001374692.1:c.921+336_921+352del	NP_001361621.1:n.921+336_921+352del
NM_001374693.1:c.921+336_921+352del	NP_001361622.1:n.921+336_921+352del
NM_001374695.1:c.882+336_882+352del	NP_001361624.1:n.882+336_882+352del
NM_007171.4:c.1338+336_1338+352del	NP_009102.4:n.1338+336_1338+352del
NR_148391.2:n.1306+336_1306+352del
NR_148392.2:n.1524+336_1524+352del
NR_148393.2:n.1306+336_1306+352del
NR_148394.2:n.1199+336_1199+352del
NR_148395.2:n.1458+336_1458+352del
NR_148396.2:n.1092+336_1092+352del
NR_148397.2:n.1356+336_1356+352del
NR_148398.2:n.1311+336_1311+352del
NR_148399.2:n.1698+336_1698+352del
NR_148400.2:n.1297+336_1297+352del