Canonical Allele Identifier: CA590753224

Gene: POMT1

Linked Data

• dbSNP Id: rs1466580439
• gnomAD v2: 9-134391092-ACACTTCCTCACACGGAG-A
• gnomAD v3: 9-131515705-ACACTTCCTCACACGGAG-A
• gnomAD v4: 9-131515705-ACACTTCCTCACACGGAG-A
• MyVariant Identifiers: chr9:g.134391093_134391109del (hg19) ; chr9:g.131515706_131515722del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515714_131515730del , CM000671.2:g.131515714_131515730del	GRCh38
NC_000009.11:g.134391101_134391117del , CM000671.1:g.134391101_134391117del	GRCh37
NC_000009.10:g.133380922_133380938del	NCBI36
NG_008896.1:g.17813_17829del
NG_008896.2:g.17813_17829del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1110+192_1110+208del	ENSP00000343034.7:n.1110+192_1110+208del
ENST00000404875.7:n.1812+192_1812+208del
ENST00000423007.6:c.1329+192_1329+208del	ENSP00000404119.2:n.1329+192_1329+208del
ENST00000677295.2:c.*1616+192_*1616+208del	ENSP00000504346.2:n.*1616+192_*1616+208del
ENST00000678264.2:c.*1455+192_*1455+208del	ENSP00000503157.2:n.*1455+192_*1455+208del
ENST00000682070.1:n.1737+192_1737+208del
ENST00000682539.1:c.97+192_97+208del
ENST00000682813.1:n.1537+192_1537+208del
ENST00000683392.1:n.4019+192_4019+208del
ENST00000683712.1:n.1677+192_1677+208del
ENST00000683900.1:n.3172+192_3172+208del
ENST00000684062.1:n.1938+192_1938+208del
ENST00000684579.1:n.3118+192_3118+208del
ENST00000341012.12:c.1110+192_1110+208del	ENSP00000343034.7:n.1110+192_1110+208del
ENST00000372220.5:c.141+192_141+208del	ENSP00000361294.5:n.141+192_141+208del
ENST00000372228.9:c.1338+192_1338+208del	ENSP00000361302.3:n.1338+192_1338+208del
ENST00000402686.8:c.1272+192_1272+208del MANE Select	ENSP00000385797.4:n.1272+192_1272+208del
ENST00000676640.1:c.1272+192_1272+208del	ENSP00000503281.1:n.1272+192_1272+208del
ENST00000676803.1:c.447+192_447+208del	ENSP00000503093.1:n.447+192_447+208del
ENST00000676835.1:c.*487+192_*487+208del	ENSP00000502911.1:n.*487+192_*487+208del
ENST00000677029.1:c.816+192_816+208del	ENSP00000502936.1:n.816+192_816+208del
ENST00000677099.1:c.*982+192_*982+208del	ENSP00000504553.1:n.*982+192_*982+208del
ENST00000677216.1:c.921+192_921+208del	ENSP00000503772.1:n.921+192_921+208del
ENST00000677295.1:c.*649+192_*649+208del	ENSP00000504346.1:n.*649+192_*649+208del
ENST00000677444.1:c.1078+192_1078+208del
ENST00000677586.1:n.753+192_753+208del
ENST00000677626.1:c.921+192_921+208del	ENSP00000503552.1:n.921+192_921+208del
ENST00000677677.1:n.1232+192_1232+208del
ENST00000677853.1:c.*280+192_*280+208del	ENSP00000503488.1:n.*280+192_*280+208del
ENST00000677944.1:c.534+192_534+208del
ENST00000678264.1:c.*649+192_*649+208del	ENSP00000503157.1:n.*649+192_*649+208del
ENST00000678303.1:c.1182+192_1182+208del	ENSP00000503696.1:n.1182+192_1182+208del
ENST00000678366.1:c.*1521+192_*1521+208del	ENSP00000504353.1:n.*1521+192_*1521+208del
ENST00000678546.1:c.*1217+192_*1217+208del	ENSP00000503062.1:n.*1217+192_*1217+208del
ENST00000678548.1:c.*1344+192_*1344+208del	ENSP00000503934.1:n.*1344+192_*1344+208del
ENST00000678626.1:n.969+192_969+208del
ENST00000678733.1:c.353+192_353+208del
ENST00000678739.1:c.*1598+192_*1598+208del	ENSP00000503806.1:n.*1598+192_*1598+208del
ENST00000678795.1:n.359+192_359+208del
ENST00000678833.1:c.*719+192_*719+208del	ENSP00000503893.1:n.*719+192_*719+208del
ENST00000678942.1:c.452+192_452+208del	ENSP00000504690.1:n.452+192_452+208del
ENST00000679023.1:c.1110+192_1110+208del	ENSP00000503718.1:n.1110+192_1110+208del
ENST00000679076.1:c.891+192_891+208del
ENST00000679111.1:c.1272+192_1272+208del	ENSP00000504257.1:n.1272+192_1272+208del
ENST00000679189.1:c.921+192_921+208del	ENSP00000503356.1:n.921+192_921+208del
ENST00000341012.11:c.1110+192_1110+208del	ENSP00000343034.7:n.1110+192_1110+208del
ENST00000372228.7:c.1338+192_1338+208del	ENSP00000361302.3:n.1338+192_1338+208del
ENST00000402686.7:c.1272+192_1272+208del	ENSP00000385797.3:n.1272+192_1272+208del
ENST00000404875.6:c.921+192_921+208del	ENSP00000384531.2:n.921+192_921+208del
ENST00000423007.5:c.1272+192_1272+208del	ENSP00000404119.1:n.1272+192_1272+208del
ENST00000485278.5:n.1827+192_1827+208del
NM_001077365.1:c.1272+192_1272+208del	NP_001070833.1:n.1272+192_1272+208del
NM_001077366.1:c.1110+192_1110+208del	NP_001070834.1:n.1110+192_1110+208del
NM_001136113.1:c.1272+192_1272+208del	NP_001129585.1:n.1272+192_1272+208del
NM_001136114.1:c.921+192_921+208del	NP_001129586.1:n.921+192_921+208del
NM_007171.3:c.1338+192_1338+208del	NP_009102.3:n.1338+192_1338+208del
XM_005272156.1:c.1338+192_1338+208del	XP_005272213.1:n.1338+192_1338+208del
XM_005272158.1:c.1176+192_1176+208del	XP_005272215.1:n.1176+192_1176+208del
XM_005272159.1:c.987+192_987+208del	XP_005272216.1:n.987+192_987+208del
XM_005272162.1:c.141+192_141+208del	XP_005272219.1:n.141+192_141+208del
XM_006716932.1:c.987+192_987+208del	XP_006716995.1:n.987+192_987+208del
XM_011518140.1:c.1191+192_1191+208del	XP_011516442.1:n.1191+192_1191+208del
XM_011518141.1:c.1125+192_1125+208del	XP_011516443.1:n.1125+192_1125+208del
XM_011518142.1:c.1029+192_1029+208del	XP_011516444.1:n.1029+192_1029+208del
XM_011518143.1:c.1023+192_1023+208del	XP_011516445.1:n.1023+192_1023+208del
XM_011518144.1:c.1338+192_1338+208del	XP_011516446.1:n.1338+192_1338+208del
XM_011518145.1:c.882+192_882+208del	XP_011516447.1:n.882+192_882+208del
XM_011518146.1:c.1023+192_1023+208del	XP_011516448.1:n.1023+192_1023+208del
XR_929703.1:n.1514+192_1514+208del
NM_001353193.1:c.1338+192_1338+208del	NP_001340122.1:n.1338+192_1338+208del
NM_001353194.1:c.1110+192_1110+208del	NP_001340123.1:n.1110+192_1110+208del
NM_001353195.1:c.921+192_921+208del	NP_001340124.1:n.921+192_921+208del
NM_001353196.1:c.1182+192_1182+208del	NP_001340125.1:n.1182+192_1182+208del
NM_001353197.1:c.1176+192_1176+208del	NP_001340126.1:n.1176+192_1176+208del
NM_001353198.1:c.1176+192_1176+208del	NP_001340127.1:n.1176+192_1176+208del
NM_001353199.1:c.987+192_987+208del	NP_001340128.1:n.987+192_987+208del
NM_001353200.1:c.816+192_816+208del	NP_001340129.1:n.816+192_816+208del
NR_148391.1:n.1322+192_1322+208del
NR_148392.1:n.1540+192_1540+208del
NR_148393.1:n.1322+192_1322+208del
NR_148394.1:n.1215+192_1215+208del
NR_148395.1:n.1474+192_1474+208del
NR_148396.1:n.1108+192_1108+208del
NR_148397.1:n.1372+192_1372+208del
NR_148398.1:n.1327+192_1327+208del
NR_148399.1:n.1714+192_1714+208del
NR_148400.1:n.1313+192_1313+208del
XM_005272162.3:c.141+192_141+208del	XP_005272219.1:n.141+192_141+208del
XM_006716932.2:c.987+192_987+208del	XP_006716995.1:n.987+192_987+208del
XM_011518140.2:c.1191+192_1191+208del	XP_011516442.1:n.1191+192_1191+208del
XM_011518141.2:c.1125+192_1125+208del	XP_011516443.1:n.1125+192_1125+208del
XM_011518142.2:c.1029+192_1029+208del	XP_011516444.1:n.1029+192_1029+208del
XM_011518143.2:c.1023+192_1023+208del	XP_011516445.1:n.1023+192_1023+208del
XM_011518145.2:c.882+192_882+208del	XP_011516447.1:n.882+192_882+208del
XM_017014205.2:c.141+192_141+208del	XP_016869694.1:n.141+192_141+208del
XM_024447380.1:c.141+192_141+208del	XP_024303148.1:n.141+192_141+208del
XM_024447381.1:c.447+192_447+208del	XP_024303149.1:n.447+192_447+208del
XM_024447382.1:c.141+192_141+208del	XP_024303150.1:n.141+192_141+208del
XR_001746160.2:n.1442+192_1442+208del
XR_001746162.2:n.1508+192_1508+208del
XR_001746164.1:n.1225+192_1225+208del
XR_001746166.2:n.1659+192_1659+208del
NM_001077365.2:c.1272+192_1272+208del MANE Select	NP_001070833.1:n.1272+192_1272+208del
NM_001077366.2:c.1110+192_1110+208del	NP_001070834.1:n.1110+192_1110+208del
NM_001136113.2:c.1272+192_1272+208del	NP_001129585.1:n.1272+192_1272+208del
NM_001136114.2:c.921+192_921+208del	NP_001129586.1:n.921+192_921+208del
NM_001353193.2:c.1338+192_1338+208del	NP_001340122.2:n.1338+192_1338+208del
NM_001353194.2:c.1110+192_1110+208del	NP_001340123.1:n.1110+192_1110+208del
NM_001353195.2:c.921+192_921+208del	NP_001340124.1:n.921+192_921+208del
NM_001353196.2:c.1182+192_1182+208del	NP_001340125.1:n.1182+192_1182+208del
NM_001353197.2:c.1176+192_1176+208del	NP_001340126.2:n.1176+192_1176+208del
NM_001353198.2:c.1176+192_1176+208del	NP_001340127.2:n.1176+192_1176+208del
NM_001353199.2:c.987+192_987+208del	NP_001340128.2:n.987+192_987+208del
NM_001353200.2:c.816+192_816+208del	NP_001340129.1:n.816+192_816+208del
NM_001374689.1:c.1260+192_1260+208del	NP_001361618.1:n.1260+192_1260+208del
NM_001374690.1:c.1272+192_1272+208del	NP_001361619.1:n.1272+192_1272+208del
NM_001374691.1:c.921+192_921+208del	NP_001361620.1:n.921+192_921+208del
NM_001374692.1:c.921+192_921+208del	NP_001361621.1:n.921+192_921+208del
NM_001374693.1:c.921+192_921+208del	NP_001361622.1:n.921+192_921+208del
NM_001374695.1:c.882+192_882+208del	NP_001361624.1:n.882+192_882+208del
NM_007171.4:c.1338+192_1338+208del	NP_009102.4:n.1338+192_1338+208del
NR_148391.2:n.1306+192_1306+208del
NR_148392.2:n.1524+192_1524+208del
NR_148393.2:n.1306+192_1306+208del
NR_148394.2:n.1199+192_1199+208del
NR_148395.2:n.1458+192_1458+208del
NR_148396.2:n.1092+192_1092+208del
NR_148397.2:n.1356+192_1356+208del
NR_148398.2:n.1311+192_1311+208del
NR_148399.2:n.1698+192_1698+208del
NR_148400.2:n.1297+192_1297+208del