Canonical Allele Identifier: CA5293176

Gene: POMT1

Linked Data

• ClinVar Variation Id: 431953
• ClinVar RCV Id: RCV000498358 ; RCV000850367 ; RCV001205238 ; RCV003476193
• dbSNP Id: rs750195040
• ExAC: 9:134381550 ATCT / A
• gnomAD v2: 9-134381550-ATCT-A
• gnomAD v3: 9-131506163-ATCT-A
• gnomAD v4: 9-131506163-ATCT-A
• MyVariant Identifiers: chr9:g.134381558_134381560del (hg19) ; chr9:g.134381551_134381553del (hg19) ; chr9:g.131506171_131506173del (hg38) ; chr9:g.131506164_131506166del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131506171_131506173del , CM000671.2:g.131506171_131506173del	GRCh38
NC_000009.11:g.134381558_134381560del , CM000671.1:g.134381558_134381560del	GRCh37
NC_000009.10:g.133371379_133371381del	NCBI36
NG_008896.1:g.8270_8272del
NG_008896.2:g.8270_8272del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.18_20del	ENSP00000343034.7:p.Phe6del
ENST00000404875.7:n.289_291del
ENST00000423007.6:c.180_182del	ENSP00000404119.2:p.Phe60del
ENST00000677295.2:c.*306-232_*306-230del	ENSP00000504346.2:n.*306-232_*306-230del
ENST00000678264.2:c.*363_*365del	ENSP00000503157.2:n.*363_*365del
ENST00000678768.2:n.197-232_197-230del
ENST00000678942.2:c.122+1831_122+1833del	ENSP00000504690.2:n.122+1831_122+1833del
ENST00000682070.1:n.377_379del
ENST00000682813.1:n.182_184del
ENST00000683229.1:c.-29-2740_-29-2738del	ENSP00000506964.1:n.-29-2740_-29-2738del
ENST00000683392.1:n.354_356del
ENST00000683615.1:c.18_20del	ENSP00000506831.1:p.Phe6del
ENST00000683712.1:n.317_319del
ENST00000683900.1:n.1174_1176del
ENST00000684579.1:n.362_364del
ENST00000341012.12:c.18_20del	ENSP00000343034.7:p.Phe6del
ENST00000372220.5:c.-146+3098_-146+3100del	ENSP00000361294.5:n.-146+3098_-146+3100del
ENST00000372228.9:c.180_182del	ENSP00000361302.3:p.Phe60del
ENST00000402686.8:c.180_182del MANE Select	ENSP00000385797.4:p.Phe60del
ENST00000415075.6:c.123-232_123-230del	ENSP00000405149.2:n.123-232_123-230del
ENST00000418774.6:c.123-12_123-10del	ENSP00000390737.2:n.123-12_123-10del
ENST00000430619.2:c.-80-232_-80-230del	ENSP00000402083.2:n.-80-232_-80-230del
ENST00000483472.2:n.148_150del
ENST00000676640.1:c.180_182del	ENSP00000503281.1:p.Phe60del
ENST00000676803.1:c.-127+3098_-127+3100del	ENSP00000503093.1:n.-127+3098_-127+3100del
ENST00000676835.1:c.-122-232_-122-230del	ENSP00000502911.1:n.-122-232_-122-230del
ENST00000676915.1:c.180_182del	ENSP00000504628.1:p.Phe60del
ENST00000677028.1:c.18_20del	ENSP00000503896.1:p.Phe6del
ENST00000677029.1:c.-80-232_-80-230del	ENSP00000502936.1:n.-80-232_-80-230del
ENST00000677099.1:c.123-1197_123-1195del	ENSP00000504553.1:n.123-1197_123-1195del
ENST00000677167.1:c.180_182del	ENSP00000503307.1:p.Phe60del
ENST00000677216.1:c.-122-232_-122-230del	ENSP00000503772.1:n.-122-232_-122-230del
ENST00000677293.1:c.-30+3098_-30+3100del	ENSP00000504278.1:n.-30+3098_-30+3100del
ENST00000677295.1:c.18_20del	ENSP00000504346.1:p.Phe6del
ENST00000677586.1:n.130-232_130-230del
ENST00000677626.1:c.18_20del	ENSP00000503552.1:p.Phe6del
ENST00000677677.1:n.140_142del
ENST00000677729.1:c.180_182del	ENSP00000503581.1:p.Phe60del
ENST00000677853.1:c.18_20del	ENSP00000503488.1:p.Phe6del
ENST00000678264.1:c.180_182del	ENSP00000503157.1:p.Phe60del
ENST00000678303.1:c.123-232_123-230del	ENSP00000503696.1:n.123-232_123-230del
ENST00000678366.1:c.*363_*365del	ENSP00000504353.1:n.*363_*365del
ENST00000678546.1:c.18_20del	ENSP00000503062.1:p.Phe6del
ENST00000678548.1:c.123-232_123-230del	ENSP00000503934.1:n.123-232_123-230del
ENST00000678626.1:n.69-232_69-230del
ENST00000678707.1:n.127-232_127-230del
ENST00000678739.1:c.*238_*240del	ENSP00000503806.1:n.*238_*240del
ENST00000678785.1:c.18_20del	ENSP00000504231.1:p.Phe6del
ENST00000678833.1:c.180_182del	ENSP00000503893.1:p.Phe60del
ENST00000679023.1:c.18_20del	ENSP00000503718.1:p.Phe6del
ENST00000679111.1:c.180_182del	ENSP00000504257.1:p.Phe60del
ENST00000679189.1:c.-71-1197_-71-1195del	ENSP00000503356.1:n.-71-1197_-71-1195del
ENST00000679221.1:c.-122-232_-122-230del	ENSP00000504422.1:n.-122-232_-122-230del
ENST00000341012.11:c.18_20del	ENSP00000343034.7:p.Phe6del
ENST00000372228.7:c.180_182del	ENSP00000361302.3:p.Phe60del
ENST00000402686.7:c.180_182del	ENSP00000385797.3:p.Phe60del
ENST00000404875.6:c.-122-232_-122-230del	ENSP00000384531.2:n.-122-232_-122-230del
ENST00000415075.5:c.-122-232_-122-230del	ENSP00000405149.1:n.-122-232_-122-230del
ENST00000418774.5:c.180_182del	ENSP00000390737.1:p.Phe60del
ENST00000423007.5:c.180_182del	ENSP00000404119.1:p.Phe60del
ENST00000430619.1:c.-122-232_-122-230del	ENSP00000402083.1:n.-122-232_-122-230del
ENST00000441334.5:c.-122-232_-122-230del	ENSP00000395060.1:n.-122-232_-122-230del
ENST00000448212.5:c.18_20del	ENSP00000403736.1:p.Phe6del
ENST00000483472.1:n.148_150del
NM_001077365.1:c.180_182del	NP_001070833.1:p.Phe60del
NM_001077366.1:c.18_20del	NP_001070834.1:p.Phe6del
NM_001136113.1:c.180_182del	NP_001129585.1:p.Phe60del
NM_001136114.1:c.-122-232_-122-230del	NP_001129586.1:n.-122-232_-122-230del
NM_007171.3:c.180_182del	NP_009102.3:p.Phe60del
XM_005272156.1:c.180_182del	XP_005272213.1:p.Phe60del
XM_005272158.1:c.18_20del	XP_005272215.1:p.Phe6del
XM_005272159.1:c.-122-232_-122-230del	XP_005272216.1:n.-122-232_-122-230del
XM_005272162.1:c.-1220_-1218del	XP_005272219.1:n.-1220_-1218del
XM_006716932.1:c.-122-232_-122-230del	XP_006716995.1:n.-122-232_-122-230del
XM_011518140.1:c.180_182del	XP_011516442.1:p.Phe60del
XM_011518141.1:c.180_182del	XP_011516443.1:p.Phe60del
XM_011518142.1:c.18_20del	XP_011516444.1:p.Phe6del
XM_011518143.1:c.123-232_123-230del	XP_011516445.1:n.123-232_123-230del
XM_011518144.1:c.180_182del	XP_011516446.1:p.Phe60del
XM_011518145.1:c.-80-232_-80-230del	XP_011516447.1:n.-80-232_-80-230del
XM_011518146.1:c.123-232_123-230del	XP_011516448.1:n.123-232_123-230del
XR_929703.1:n.356_358del
NM_001353193.1:c.180_182del	NP_001340122.1:p.Phe60del
NM_001353194.1:c.18_20del	NP_001340123.1:p.Phe6del
NM_001353195.1:c.-122-232_-122-230del	NP_001340124.1:n.-122-232_-122-230del
NM_001353196.1:c.123-232_123-230del	NP_001340125.1:n.123-232_123-230del
NM_001353197.1:c.18_20del	NP_001340126.1:p.Phe6del
NM_001353198.1:c.18_20del	NP_001340127.1:p.Phe6del
NM_001353199.1:c.-122-232_-122-230del	NP_001340128.1:n.-122-232_-122-230del
NM_001353200.1:c.-80-232_-80-230del	NP_001340129.1:n.-80-232_-80-230del
NR_148391.1:n.230_232del
NR_148392.1:n.382_384del
NR_148393.1:n.230_232del
NR_148394.1:n.230_232del
NR_148395.1:n.382_384del
NR_148396.1:n.173-232_173-230del
NR_148397.1:n.325-232_325-230del
NR_148398.1:n.230_232del
NR_148399.1:n.622_624del
NR_148400.1:n.413-232_413-230del
XM_005272162.3:c.-1220_-1218del	XP_005272219.1:n.-1220_-1218del
XM_006716932.2:c.-122-232_-122-230del	XP_006716995.1:n.-122-232_-122-230del
XM_011518140.2:c.180_182del	XP_011516442.1:p.Phe60del
XM_011518141.2:c.180_182del	XP_011516443.1:p.Phe60del
XM_011518142.2:c.18_20del	XP_011516444.1:p.Phe6del
XM_011518143.2:c.123-232_123-230del	XP_011516445.1:n.123-232_123-230del
XM_011518145.2:c.-80-232_-80-230del	XP_011516447.1:n.-80-232_-80-230del
XM_017014205.2:c.-1023_-1021del	XP_016869694.1:n.-1023_-1021del
XM_024447380.1:c.-760-232_-760-230del	XP_024303148.1:n.-760-232_-760-230del
XM_024447381.1:c.-909_-907del	XP_024303149.1:n.-909_-907del
XM_024447382.1:c.-2616_-2614del	XP_024303150.1:n.-2616_-2614del
XR_001746160.2:n.350_352del
XR_001746162.2:n.350_352del
XR_001746164.1:n.325-232_325-230del
XR_001746166.2:n.304_306del
NM_001077365.2:c.180_182del MANE Select	NP_001070833.1:p.Phe60del
NM_001077366.2:c.18_20del	NP_001070834.1:p.Phe6del
NM_001136113.2:c.180_182del	NP_001129585.1:p.Phe60del
NM_001136114.2:c.-122-232_-122-230del	NP_001129586.1:n.-122-232_-122-230del
NM_001353193.2:c.180_182del	NP_001340122.2:p.Phe60del
NM_001353194.2:c.18_20del	NP_001340123.1:p.Phe6del
NM_001353195.2:c.-122-232_-122-230del	NP_001340124.1:n.-122-232_-122-230del
NM_001353196.2:c.123-232_123-230del	NP_001340125.1:n.123-232_123-230del
NM_001353197.2:c.18_20del	NP_001340126.2:p.Phe6del
NM_001353198.2:c.18_20del	NP_001340127.2:p.Phe6del
NM_001353199.2:c.-122-232_-122-230del	NP_001340128.2:n.-122-232_-122-230del
NM_001353200.2:c.-80-232_-80-230del	NP_001340129.1:n.-80-232_-80-230del
NM_001374689.1:c.18_20del	NP_001361618.1:p.Phe6del
NM_001374690.1:c.180_182del	NP_001361619.1:p.Phe60del
NM_001374691.1:c.-71-1197_-71-1195del	NP_001361620.1:n.-71-1197_-71-1195del
NM_001374692.1:c.-71-1197_-71-1195del	NP_001361621.1:n.-71-1197_-71-1195del
NM_001374693.1:c.18_20del	NP_001361622.1:p.Phe6del
NM_001374695.1:c.-30+1831_-30+1833del	NP_001361624.1:n.-30+1831_-30+1833del
NM_007171.4:c.180_182del	NP_009102.4:p.Phe60del
NR_148391.2:n.214_216del
NR_148392.2:n.366_368del
NR_148393.2:n.214_216del
NR_148394.2:n.214_216del
NR_148395.2:n.366_368del
NR_148396.2:n.157-232_157-230del
NR_148397.2:n.309-232_309-230del
NR_148398.2:n.214_216del
NR_148399.2:n.606_608del
NR_148400.2:n.397-232_397-230del