Canonical Allele Identifier: CA1129598382

Gene: POMT1

Linked Data

• dbSNP Id: rs2131777119
• gnomAD v3: 9-131515919-ACTTCCTCACAG-A
• gnomAD v4: 9-131515919-ACTTCCTCACAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515920_131515930del , CM000671.2:g.131515920_131515930del	GRCh38
NC_000009.11:g.134391307_134391317del , CM000671.1:g.134391307_134391317del	GRCh37
NC_000009.10:g.133381128_133381138del	NCBI36
NG_008896.1:g.18019_18029del
NG_008896.2:g.18019_18029del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1110+398_1110+408del	ENSP00000343034.7:n.1110+398_1110+408del
ENST00000404875.7:n.1812+398_1812+408del
ENST00000423007.6:c.1329+398_1329+408del	ENSP00000404119.2:n.1329+398_1329+408del
ENST00000677295.2:c.*1616+398_*1616+408del	ENSP00000504346.2:n.*1616+398_*1616+408del
ENST00000678264.2:c.*1455+398_*1455+408del	ENSP00000503157.2:n.*1455+398_*1455+408del
ENST00000682070.1:n.1737+398_1737+408del
ENST00000682539.1:c.97+398_97+408del
ENST00000682813.1:n.1537+398_1537+408del
ENST00000683392.1:n.4019+398_4019+408del
ENST00000683712.1:n.1677+398_1677+408del
ENST00000683900.1:n.3172+398_3172+408del
ENST00000684062.1:n.1938+398_1938+408del
ENST00000684579.1:n.3118+398_3118+408del
ENST00000341012.12:c.1110+398_1110+408del	ENSP00000343034.7:n.1110+398_1110+408del
ENST00000372220.5:c.141+398_141+408del	ENSP00000361294.5:n.141+398_141+408del
ENST00000372228.9:c.1338+398_1338+408del	ENSP00000361302.3:n.1338+398_1338+408del
ENST00000402686.8:c.1272+398_1272+408del MANE Select	ENSP00000385797.4:n.1272+398_1272+408del
ENST00000676640.1:c.1272+398_1272+408del	ENSP00000503281.1:n.1272+398_1272+408del
ENST00000676803.1:c.447+398_447+408del	ENSP00000503093.1:n.447+398_447+408del
ENST00000676835.1:c.*487+398_*487+408del	ENSP00000502911.1:n.*487+398_*487+408del
ENST00000677029.1:c.816+398_816+408del	ENSP00000502936.1:n.816+398_816+408del
ENST00000677099.1:c.*982+398_*982+408del	ENSP00000504553.1:n.*982+398_*982+408del
ENST00000677216.1:c.921+398_921+408del	ENSP00000503772.1:n.921+398_921+408del
ENST00000677295.1:c.*649+398_*649+408del	ENSP00000504346.1:n.*649+398_*649+408del
ENST00000677444.1:c.1078+398_1078+408del
ENST00000677586.1:n.753+398_753+408del
ENST00000677626.1:c.921+398_921+408del	ENSP00000503552.1:n.921+398_921+408del
ENST00000677677.1:n.1232+398_1232+408del
ENST00000677853.1:c.*280+398_*280+408del	ENSP00000503488.1:n.*280+398_*280+408del
ENST00000677944.1:c.534+398_534+408del
ENST00000678264.1:c.*649+398_*649+408del	ENSP00000503157.1:n.*649+398_*649+408del
ENST00000678303.1:c.1182+398_1182+408del	ENSP00000503696.1:n.1182+398_1182+408del
ENST00000678366.1:c.*1521+398_*1521+408del	ENSP00000504353.1:n.*1521+398_*1521+408del
ENST00000678546.1:c.*1217+398_*1217+408del	ENSP00000503062.1:n.*1217+398_*1217+408del
ENST00000678548.1:c.*1344+398_*1344+408del	ENSP00000503934.1:n.*1344+398_*1344+408del
ENST00000678626.1:n.969+398_969+408del
ENST00000678733.1:c.353+398_353+408del
ENST00000678739.1:c.*1598+398_*1598+408del	ENSP00000503806.1:n.*1598+398_*1598+408del
ENST00000678795.1:n.359+398_359+408del
ENST00000678833.1:c.*719+398_*719+408del	ENSP00000503893.1:n.*719+398_*719+408del
ENST00000678942.1:c.452+398_452+408del	ENSP00000504690.1:n.452+398_452+408del
ENST00000679023.1:c.1110+398_1110+408del	ENSP00000503718.1:n.1110+398_1110+408del
ENST00000679076.1:c.891+398_891+408del
ENST00000679111.1:c.1272+398_1272+408del	ENSP00000504257.1:n.1272+398_1272+408del
ENST00000679189.1:c.921+398_921+408del	ENSP00000503356.1:n.921+398_921+408del
ENST00000341012.11:c.1110+398_1110+408del	ENSP00000343034.7:n.1110+398_1110+408del
ENST00000372228.7:c.1338+398_1338+408del	ENSP00000361302.3:n.1338+398_1338+408del
ENST00000402686.7:c.1272+398_1272+408del	ENSP00000385797.3:n.1272+398_1272+408del
ENST00000404875.6:c.921+398_921+408del	ENSP00000384531.2:n.921+398_921+408del
ENST00000423007.5:c.1272+398_1272+408del	ENSP00000404119.1:n.1272+398_1272+408del
ENST00000485278.5:n.1827+398_1827+408del
NM_001077365.1:c.1272+398_1272+408del	NP_001070833.1:n.1272+398_1272+408del
NM_001077366.1:c.1110+398_1110+408del	NP_001070834.1:n.1110+398_1110+408del
NM_001136113.1:c.1272+398_1272+408del	NP_001129585.1:n.1272+398_1272+408del
NM_001136114.1:c.921+398_921+408del	NP_001129586.1:n.921+398_921+408del
NM_007171.3:c.1338+398_1338+408del	NP_009102.3:n.1338+398_1338+408del
XM_005272156.1:c.1338+398_1338+408del	XP_005272213.1:n.1338+398_1338+408del
XM_005272158.1:c.1176+398_1176+408del	XP_005272215.1:n.1176+398_1176+408del
XM_005272159.1:c.987+398_987+408del	XP_005272216.1:n.987+398_987+408del
XM_005272162.1:c.141+398_141+408del	XP_005272219.1:n.141+398_141+408del
XM_006716932.1:c.987+398_987+408del	XP_006716995.1:n.987+398_987+408del
XM_011518140.1:c.1191+398_1191+408del	XP_011516442.1:n.1191+398_1191+408del
XM_011518141.1:c.1125+398_1125+408del	XP_011516443.1:n.1125+398_1125+408del
XM_011518142.1:c.1029+398_1029+408del	XP_011516444.1:n.1029+398_1029+408del
XM_011518143.1:c.1023+398_1023+408del	XP_011516445.1:n.1023+398_1023+408del
XM_011518144.1:c.1338+398_1338+408del	XP_011516446.1:n.1338+398_1338+408del
XM_011518145.1:c.882+398_882+408del	XP_011516447.1:n.882+398_882+408del
XM_011518146.1:c.1023+398_1023+408del	XP_011516448.1:n.1023+398_1023+408del
XR_929703.1:n.1514+398_1514+408del
NM_001353193.1:c.1338+398_1338+408del	NP_001340122.1:n.1338+398_1338+408del
NM_001353194.1:c.1110+398_1110+408del	NP_001340123.1:n.1110+398_1110+408del
NM_001353195.1:c.921+398_921+408del	NP_001340124.1:n.921+398_921+408del
NM_001353196.1:c.1182+398_1182+408del	NP_001340125.1:n.1182+398_1182+408del
NM_001353197.1:c.1176+398_1176+408del	NP_001340126.1:n.1176+398_1176+408del
NM_001353198.1:c.1176+398_1176+408del	NP_001340127.1:n.1176+398_1176+408del
NM_001353199.1:c.987+398_987+408del	NP_001340128.1:n.987+398_987+408del
NM_001353200.1:c.816+398_816+408del	NP_001340129.1:n.816+398_816+408del
NR_148391.1:n.1322+398_1322+408del
NR_148392.1:n.1540+398_1540+408del
NR_148393.1:n.1322+398_1322+408del
NR_148394.1:n.1215+398_1215+408del
NR_148395.1:n.1474+398_1474+408del
NR_148396.1:n.1108+398_1108+408del
NR_148397.1:n.1372+398_1372+408del
NR_148398.1:n.1327+398_1327+408del
NR_148399.1:n.1714+398_1714+408del
NR_148400.1:n.1313+398_1313+408del
XM_005272162.3:c.141+398_141+408del	XP_005272219.1:n.141+398_141+408del
XM_006716932.2:c.987+398_987+408del	XP_006716995.1:n.987+398_987+408del
XM_011518140.2:c.1191+398_1191+408del	XP_011516442.1:n.1191+398_1191+408del
XM_011518141.2:c.1125+398_1125+408del	XP_011516443.1:n.1125+398_1125+408del
XM_011518142.2:c.1029+398_1029+408del	XP_011516444.1:n.1029+398_1029+408del
XM_011518143.2:c.1023+398_1023+408del	XP_011516445.1:n.1023+398_1023+408del
XM_011518145.2:c.882+398_882+408del	XP_011516447.1:n.882+398_882+408del
XM_017014205.2:c.141+398_141+408del	XP_016869694.1:n.141+398_141+408del
XM_024447380.1:c.141+398_141+408del	XP_024303148.1:n.141+398_141+408del
XM_024447381.1:c.447+398_447+408del	XP_024303149.1:n.447+398_447+408del
XM_024447382.1:c.141+398_141+408del	XP_024303150.1:n.141+398_141+408del
XR_001746160.2:n.1442+398_1442+408del
XR_001746162.2:n.1508+398_1508+408del
XR_001746164.1:n.1225+398_1225+408del
XR_001746166.2:n.1659+398_1659+408del
NM_001077365.2:c.1272+398_1272+408del MANE Select	NP_001070833.1:n.1272+398_1272+408del
NM_001077366.2:c.1110+398_1110+408del	NP_001070834.1:n.1110+398_1110+408del
NM_001136113.2:c.1272+398_1272+408del	NP_001129585.1:n.1272+398_1272+408del
NM_001136114.2:c.921+398_921+408del	NP_001129586.1:n.921+398_921+408del
NM_001353193.2:c.1338+398_1338+408del	NP_001340122.2:n.1338+398_1338+408del
NM_001353194.2:c.1110+398_1110+408del	NP_001340123.1:n.1110+398_1110+408del
NM_001353195.2:c.921+398_921+408del	NP_001340124.1:n.921+398_921+408del
NM_001353196.2:c.1182+398_1182+408del	NP_001340125.1:n.1182+398_1182+408del
NM_001353197.2:c.1176+398_1176+408del	NP_001340126.2:n.1176+398_1176+408del
NM_001353198.2:c.1176+398_1176+408del	NP_001340127.2:n.1176+398_1176+408del
NM_001353199.2:c.987+398_987+408del	NP_001340128.2:n.987+398_987+408del
NM_001353200.2:c.816+398_816+408del	NP_001340129.1:n.816+398_816+408del
NM_001374689.1:c.1260+398_1260+408del	NP_001361618.1:n.1260+398_1260+408del
NM_001374690.1:c.1272+398_1272+408del	NP_001361619.1:n.1272+398_1272+408del
NM_001374691.1:c.921+398_921+408del	NP_001361620.1:n.921+398_921+408del
NM_001374692.1:c.921+398_921+408del	NP_001361621.1:n.921+398_921+408del
NM_001374693.1:c.921+398_921+408del	NP_001361622.1:n.921+398_921+408del
NM_001374695.1:c.882+398_882+408del	NP_001361624.1:n.882+398_882+408del
NM_007171.4:c.1338+398_1338+408del	NP_009102.4:n.1338+398_1338+408del
NR_148391.2:n.1306+398_1306+408del
NR_148392.2:n.1524+398_1524+408del
NR_148393.2:n.1306+398_1306+408del
NR_148394.2:n.1199+398_1199+408del
NR_148395.2:n.1458+398_1458+408del
NR_148396.2:n.1092+398_1092+408del
NR_148397.2:n.1356+398_1356+408del
NR_148398.2:n.1311+398_1311+408del
NR_148399.2:n.1698+398_1698+408del
NR_148400.2:n.1297+398_1297+408del