Canonical Allele Identifier: CA590755501

Gene: POMT1

Linked Data

• ClinVar Variation Id: 2678018
• ClinVar RCV Id: RCV003472495
• dbSNP Id: rs1489831148
• gnomAD v2: 9-134398454-CT-C
• gnomAD v4: 9-131523067-CT-C
• MyVariant Identifiers: chr9:g.134398455del (hg19) ; chr9:g.131523068del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523068del , CM000671.2:g.131523068del	GRCh38
NC_000009.11:g.134398455del , CM000671.1:g.134398455del	GRCh37
NC_000009.10:g.133388276del	NCBI36
NG_008896.1:g.25167del
NG_008896.2:g.25167del

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1978del	ENSP00000343034.7:p.Trp660GlyfsTer8
ENST00000404875.7:n.2680del
ENST00000423007.6:c.2197del	ENSP00000404119.2:p.Trp733GlyfsTer8
ENST00000677295.2:c.*2484del	ENSP00000504346.2:n.*2484del
ENST00000678264.2:c.*2323del	ENSP00000503157.2:n.*2323del
ENST00000682070.1:n.2450del
ENST00000682639.1:c.137del
ENST00000682813.1:n.2537del
ENST00000683231.1:c.137del
ENST00000683392.1:n.4732del
ENST00000683712.1:n.2545del
ENST00000683900.1:n.4040del
ENST00000684062.1:n.2806del
ENST00000684399.1:c.137del
ENST00000684579.1:n.3986del
ENST00000341012.12:c.1978del	ENSP00000343034.7:p.Trp660GlyfsTer8
ENST00000372220.5:c.1009del	ENSP00000361294.5:p.Trp337GlyfsTer8
ENST00000372228.9:c.2206del	ENSP00000361302.3:p.Trp736GlyfsTer8
ENST00000402686.8:c.2140del MANE Select	ENSP00000385797.4:p.Trp714GlyfsTer8
ENST00000676640.1:c.2140del	ENSP00000503281.1:p.Trp714GlyfsTer8
ENST00000676803.1:c.1201del	ENSP00000503093.1:p.Trp401GlyfsTer8
ENST00000676835.1:c.*1355del	ENSP00000502911.1:n.*1355del
ENST00000677029.1:c.1684del	ENSP00000502936.1:p.Trp562GlyfsTer8
ENST00000677099.1:c.*1850del	ENSP00000504553.1:n.*1850del
ENST00000677216.1:c.1789del	ENSP00000503772.1:p.Trp597GlyfsTer8
ENST00000677295.1:c.*1362del	ENSP00000504346.1:n.*1362del
ENST00000677444.1:c.2085del
ENST00000677586.1:n.1507del
ENST00000677626.1:c.1789del	ENSP00000503552.1:p.Trp597GlyfsTer8
ENST00000677853.1:c.*1148del	ENSP00000503488.1:n.*1148del
ENST00000678264.1:c.*1517del	ENSP00000503157.1:n.*1517del
ENST00000678303.1:c.2050del	ENSP00000503696.1:p.Trp684GlyfsTer8
ENST00000678366.1:c.*2389del	ENSP00000504353.1:n.*2389del
ENST00000678546.1:c.*2085del	ENSP00000503062.1:n.*2085del
ENST00000678548.1:c.*2279del	ENSP00000503934.1:n.*2279del
ENST00000678626.1:n.1976del
ENST00000678739.1:c.*2306del	ENSP00000503806.1:n.*2306del
ENST00000678833.1:c.*1892del	ENSP00000503893.1:n.*1892del
ENST00000679023.1:c.1978del	ENSP00000503718.1:p.Trp660GlyfsTer8
ENST00000679076.1:c.1759del
ENST00000679111.1:c.*896del	ENSP00000504257.1:n.*896del
ENST00000679189.1:c.1789del	ENSP00000503356.1:p.Trp597GlyfsTer8
ENST00000341012.11:c.1978del	ENSP00000343034.7:p.Trp660GlyfsTer8
ENST00000372220.4:c.1003del	ENSP00000361294.4:p.Trp335GlyfsTer8
ENST00000372228.7:c.2206del	ENSP00000361302.3:p.Trp736GlyfsTer8
ENST00000402686.7:c.2140del	ENSP00000385797.3:p.Trp714GlyfsTer8
ENST00000404875.6:c.1789del	ENSP00000384531.2:p.Trp597GlyfsTer8
ENST00000423007.5:c.2140del	ENSP00000404119.1:p.Trp714GlyfsTer8
ENST00000485278.5:n.2690del
NM_001077365.1:c.2140del	NP_001070833.1:p.Trp714GlyfsTer8
NM_001077366.1:c.1978del	NP_001070834.1:p.Trp660GlyfsTer8
NM_001136113.1:c.2140del	NP_001129585.1:p.Trp714GlyfsTer8
NM_001136114.1:c.1789del	NP_001129586.1:p.Trp597GlyfsTer8
NM_007171.3:c.2206del	NP_009102.3:p.Trp736GlyfsTer8
XM_005272156.1:c.2206del	XP_005272213.1:p.Trp736GlyfsTer8
XM_005272158.1:c.2044del	XP_005272215.1:p.Trp682GlyfsTer8
XM_005272159.1:c.1855del	XP_005272216.1:p.Trp619GlyfsTer8
XM_005272162.1:c.1009del	XP_005272219.1:p.Trp337GlyfsTer8
XM_006716932.1:c.1855del	XP_006716995.1:p.Trp619GlyfsTer8
XM_011518140.1:c.2059del	XP_011516442.1:p.Trp687GlyfsTer8
XM_011518141.1:c.1993del	XP_011516443.1:p.Trp665GlyfsTer8
XM_011518142.1:c.1897del	XP_011516444.1:p.Trp633GlyfsTer8
XM_011518143.1:c.1891del	XP_011516445.1:p.Trp631GlyfsTer8
XM_011518145.1:c.1750del	XP_011516447.1:p.Trp584GlyfsTer8
XM_011518147.1:c.1078del	XP_011516449.1:p.Trp360GlyfsTer8
XR_929703.1:n.2382del
NM_001353193.1:c.2206del	NP_001340122.1:p.Trp736GlyfsTer8
NM_001353194.1:c.1978del	NP_001340123.1:p.Trp660GlyfsTer8
NM_001353195.1:c.1789del	NP_001340124.1:p.Trp597GlyfsTer8
NM_001353196.1:c.2050del	NP_001340125.1:p.Trp684GlyfsTer8
NM_001353197.1:c.2044del	NP_001340126.1:p.Trp682GlyfsTer8
NM_001353198.1:c.2044del	NP_001340127.1:p.Trp682GlyfsTer8
NM_001353199.1:c.1855del	NP_001340128.1:p.Trp619GlyfsTer8
NM_001353200.1:c.1684del	NP_001340129.1:p.Trp562GlyfsTer8
NR_148391.1:n.2190del
NR_148392.1:n.2408del
NR_148393.1:n.2329del
NR_148394.1:n.2083del
NR_148395.1:n.2481del
NR_148396.1:n.2115del
NR_148397.1:n.2240del
NR_148398.1:n.2195del
NR_148399.1:n.2721del
NR_148400.1:n.2320del
XM_005272162.3:c.1009del	XP_005272219.1:p.Trp337GlyfsTer8
XM_006716932.2:c.1855del	XP_006716995.1:p.Trp619GlyfsTer8
XM_011518140.2:c.2059del	XP_011516442.1:p.Trp687GlyfsTer8
XM_011518141.2:c.1993del	XP_011516443.1:p.Trp665GlyfsTer8
XM_011518142.2:c.1897del	XP_011516444.1:p.Trp633GlyfsTer8
XM_011518143.2:c.1891del	XP_011516445.1:p.Trp631GlyfsTer8
XM_011518145.2:c.1750del	XP_011516447.1:p.Trp584GlyfsTer8
XM_017014205.2:c.1009del	XP_016869694.1:p.Trp337GlyfsTer8
XM_024447380.1:c.1009del	XP_024303148.1:p.Trp337GlyfsTer8
XM_024447381.1:c.1315del	XP_024303149.1:p.Trp439GlyfsTer8
XM_024447382.1:c.1009del	XP_024303150.1:p.Trp337GlyfsTer8
XR_001746160.2:n.2310del
XR_001746162.2:n.2515del
XR_001746164.1:n.2232del
XR_001746166.2:n.2527del
NM_001077365.2:c.2140del MANE Select	NP_001070833.1:p.Trp714GlyfsTer8
NM_001077366.2:c.1978del	NP_001070834.1:p.Trp660GlyfsTer8
NM_001136113.2:c.2140del	NP_001129585.1:p.Trp714GlyfsTer8
NM_001136114.2:c.1789del	NP_001129586.1:p.Trp597GlyfsTer8
NM_001353193.2:c.2206del	NP_001340122.2:p.Trp736GlyfsTer8
NM_001353194.2:c.1978del	NP_001340123.1:p.Trp660GlyfsTer8
NM_001353195.2:c.1789del	NP_001340124.1:p.Trp597GlyfsTer8
NM_001353196.2:c.2050del	NP_001340125.1:p.Trp684GlyfsTer8
NM_001353197.2:c.2044del	NP_001340126.2:p.Trp682GlyfsTer8
NM_001353198.2:c.2044del	NP_001340127.2:p.Trp682GlyfsTer8
NM_001353199.2:c.1855del	NP_001340128.2:p.Trp619GlyfsTer8
NM_001353200.2:c.1684del	NP_001340129.1:p.Trp562GlyfsTer8
NM_001374689.1:c.2128del	NP_001361618.1:p.Trp710GlyfsTer8
NM_001374690.1:c.1921del	NP_001361619.1:p.Trp641GlyfsTer8
NM_001374691.1:c.1789del	NP_001361620.1:p.Trp597GlyfsTer8
NM_001374692.1:c.1789del	NP_001361621.1:p.Trp597GlyfsTer8
NM_001374693.1:c.1789del	NP_001361622.1:p.Trp597GlyfsTer8
NM_001374695.1:c.1750del	NP_001361624.1:p.Trp584GlyfsTer8
NM_007171.4:c.2206del	NP_009102.4:p.Trp736GlyfsTer8
NR_148391.2:n.2174del
NR_148392.2:n.2392del
NR_148393.2:n.2313del
NR_148394.2:n.2067del
NR_148395.2:n.2465del
NR_148396.2:n.2099del
NR_148397.2:n.2224del
NR_148398.2:n.2179del
NR_148399.2:n.2705del
NR_148400.2:n.2304del