Canonical Allele Identifier: CA1139532753

Gene: POMT1

Linked Data

• ClinVar Variation Id: 2678012
• ClinVar RCV Id: RCV003472489
• gnomAD v4: 9-131523068-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523070del , CM000671.2:g.131523070del	GRCh38
NC_000009.11:g.134398457del , CM000671.1:g.134398457del	GRCh37
NC_000009.10:g.133388278del	NCBI36
NG_008896.1:g.25169del
NG_008896.2:g.25169del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1980del	ENSP00000343034.7:p.Trp660Ter
ENST00000404875.7:n.2682del
ENST00000423007.6:c.2199del	ENSP00000404119.2:p.Trp733Ter
ENST00000677295.2:c.*2486del	ENSP00000504346.2:n.*2486del
ENST00000678264.2:c.*2325del	ENSP00000503157.2:n.*2325del
ENST00000682070.1:n.2452del
ENST00000682639.1:c.139del
ENST00000682813.1:n.2539del
ENST00000683231.1:c.139del
ENST00000683392.1:n.4734del
ENST00000683712.1:n.2547del
ENST00000683900.1:n.4042del
ENST00000684062.1:n.2808del
ENST00000684399.1:c.139del
ENST00000684579.1:n.3988del
ENST00000341012.12:c.1980del	ENSP00000343034.7:p.Trp660Ter
ENST00000372220.5:c.1011del	ENSP00000361294.5:p.Trp337Ter
ENST00000372228.9:c.2208del	ENSP00000361302.3:p.Trp736Ter
ENST00000402686.8:c.2142del MANE Select	ENSP00000385797.4:p.Trp714Ter
ENST00000676640.1:c.2142del	ENSP00000503281.1:p.Trp714Ter
ENST00000676803.1:c.1203del	ENSP00000503093.1:p.Trp401Ter
ENST00000676835.1:c.*1357del	ENSP00000502911.1:n.*1357del
ENST00000677029.1:c.1686del	ENSP00000502936.1:p.Trp562Ter
ENST00000677099.1:c.*1852del	ENSP00000504553.1:n.*1852del
ENST00000677216.1:c.1791del	ENSP00000503772.1:p.Trp597Ter
ENST00000677295.1:c.*1364del	ENSP00000504346.1:n.*1364del
ENST00000677444.1:c.2087del
ENST00000677586.1:n.1509del
ENST00000677626.1:c.1791del	ENSP00000503552.1:p.Trp597Ter
ENST00000677853.1:c.*1150del	ENSP00000503488.1:n.*1150del
ENST00000678264.1:c.*1519del	ENSP00000503157.1:n.*1519del
ENST00000678303.1:c.2052del	ENSP00000503696.1:p.Trp684Ter
ENST00000678366.1:c.*2391del	ENSP00000504353.1:n.*2391del
ENST00000678546.1:c.*2087del	ENSP00000503062.1:n.*2087del
ENST00000678548.1:c.*2281del	ENSP00000503934.1:n.*2281del
ENST00000678626.1:n.1978del
ENST00000678739.1:c.*2308del	ENSP00000503806.1:n.*2308del
ENST00000678833.1:c.*1894del	ENSP00000503893.1:n.*1894del
ENST00000679023.1:c.1980del	ENSP00000503718.1:p.Trp660Ter
ENST00000679076.1:c.1761del
ENST00000679111.1:c.*898del	ENSP00000504257.1:n.*898del
ENST00000679189.1:c.1791del	ENSP00000503356.1:p.Trp597Ter
ENST00000341012.11:c.1980del	ENSP00000343034.7:p.Trp660Ter
ENST00000372220.4:c.1005del	ENSP00000361294.4:p.Trp335Ter
ENST00000372228.7:c.2208del	ENSP00000361302.3:p.Trp736Ter
ENST00000402686.7:c.2142del	ENSP00000385797.3:p.Trp714Ter
ENST00000404875.6:c.1791del	ENSP00000384531.2:p.Trp597Ter
ENST00000423007.5:c.2142del	ENSP00000404119.1:p.Trp714Ter
ENST00000485278.5:n.2692del
NM_001077365.1:c.2142del	NP_001070833.1:p.Trp714Ter
NM_001077366.1:c.1980del	NP_001070834.1:p.Trp660Ter
NM_001136113.1:c.2142del	NP_001129585.1:p.Trp714Ter
NM_001136114.1:c.1791del	NP_001129586.1:p.Trp597Ter
NM_007171.3:c.2208del	NP_009102.3:p.Trp736Ter
XM_005272156.1:c.2208del	XP_005272213.1:p.Trp736Ter
XM_005272158.1:c.2046del	XP_005272215.1:p.Trp682Ter
XM_005272159.1:c.1857del	XP_005272216.1:p.Trp619Ter
XM_005272162.1:c.1011del	XP_005272219.1:p.Trp337Ter
XM_006716932.1:c.1857del	XP_006716995.1:p.Trp619Ter
XM_011518140.1:c.2061del	XP_011516442.1:p.Trp687Ter
XM_011518141.1:c.1995del	XP_011516443.1:p.Trp665Ter
XM_011518142.1:c.1899del	XP_011516444.1:p.Trp633Ter
XM_011518143.1:c.1893del	XP_011516445.1:p.Trp631Ter
XM_011518145.1:c.1752del	XP_011516447.1:p.Trp584Ter
XM_011518147.1:c.1080del	XP_011516449.1:p.Trp360Ter
XR_929703.1:n.2384del
NM_001353193.1:c.2208del	NP_001340122.1:p.Trp736Ter
NM_001353194.1:c.1980del	NP_001340123.1:p.Trp660Ter
NM_001353195.1:c.1791del	NP_001340124.1:p.Trp597Ter
NM_001353196.1:c.2052del	NP_001340125.1:p.Trp684Ter
NM_001353197.1:c.2046del	NP_001340126.1:p.Trp682Ter
NM_001353198.1:c.2046del	NP_001340127.1:p.Trp682Ter
NM_001353199.1:c.1857del	NP_001340128.1:p.Trp619Ter
NM_001353200.1:c.1686del	NP_001340129.1:p.Trp562Ter
NR_148391.1:n.2192del
NR_148392.1:n.2410del
NR_148393.1:n.2331del
NR_148394.1:n.2085del
NR_148395.1:n.2483del
NR_148396.1:n.2117del
NR_148397.1:n.2242del
NR_148398.1:n.2197del
NR_148399.1:n.2723del
NR_148400.1:n.2322del
XM_005272162.3:c.1011del	XP_005272219.1:p.Trp337Ter
XM_006716932.2:c.1857del	XP_006716995.1:p.Trp619Ter
XM_011518140.2:c.2061del	XP_011516442.1:p.Trp687Ter
XM_011518141.2:c.1995del	XP_011516443.1:p.Trp665Ter
XM_011518142.2:c.1899del	XP_011516444.1:p.Trp633Ter
XM_011518143.2:c.1893del	XP_011516445.1:p.Trp631Ter
XM_011518145.2:c.1752del	XP_011516447.1:p.Trp584Ter
XM_017014205.2:c.1011del	XP_016869694.1:p.Trp337Ter
XM_024447380.1:c.1011del	XP_024303148.1:p.Trp337Ter
XM_024447381.1:c.1317del	XP_024303149.1:p.Trp439Ter
XM_024447382.1:c.1011del	XP_024303150.1:p.Trp337Ter
XR_001746160.2:n.2312del
XR_001746162.2:n.2517del
XR_001746164.1:n.2234del
XR_001746166.2:n.2529del
NM_001077365.2:c.2142del MANE Select	NP_001070833.1:p.Trp714Ter
NM_001077366.2:c.1980del	NP_001070834.1:p.Trp660Ter
NM_001136113.2:c.2142del	NP_001129585.1:p.Trp714Ter
NM_001136114.2:c.1791del	NP_001129586.1:p.Trp597Ter
NM_001353193.2:c.2208del	NP_001340122.2:p.Trp736Ter
NM_001353194.2:c.1980del	NP_001340123.1:p.Trp660Ter
NM_001353195.2:c.1791del	NP_001340124.1:p.Trp597Ter
NM_001353196.2:c.2052del	NP_001340125.1:p.Trp684Ter
NM_001353197.2:c.2046del	NP_001340126.2:p.Trp682Ter
NM_001353198.2:c.2046del	NP_001340127.2:p.Trp682Ter
NM_001353199.2:c.1857del	NP_001340128.2:p.Trp619Ter
NM_001353200.2:c.1686del	NP_001340129.1:p.Trp562Ter
NM_001374689.1:c.2130del	NP_001361618.1:p.Trp710Ter
NM_001374690.1:c.1923del	NP_001361619.1:p.Trp641Ter
NM_001374691.1:c.1791del	NP_001361620.1:p.Trp597Ter
NM_001374692.1:c.1791del	NP_001361621.1:p.Trp597Ter
NM_001374693.1:c.1791del	NP_001361622.1:p.Trp597Ter
NM_001374695.1:c.1752del	NP_001361624.1:p.Trp584Ter
NM_007171.4:c.2208del	NP_009102.4:p.Trp736Ter
NR_148391.2:n.2176del
NR_148392.2:n.2394del
NR_148393.2:n.2315del
NR_148394.2:n.2069del
NR_148395.2:n.2467del
NR_148396.2:n.2101del
NR_148397.2:n.2226del
NR_148398.2:n.2181del
NR_148399.2:n.2707del
NR_148400.2:n.2306del