Canonical Allele Identifier: CA5293876

Gene: POMT1

Linked Data

• dbSNP Id: rs759191407
• ExAC: 9:134397506 TC / T
• gnomAD v2: 9-134397506-TC-T
• gnomAD v4: 9-131522119-TC-T
• MyVariant Identifiers: chr9:g.134397507del (hg19) ; chr9:g.131522120del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522121del , CM000671.2:g.131522121del	GRCh38
NC_000009.11:g.134397508del , CM000671.1:g.134397508del	GRCh37
NC_000009.10:g.133387329del	NCBI36
NG_008896.1:g.24220del
NG_008896.2:g.24220del

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1738del	ENSP00000343034.7:p.Leu580Ter
ENST00000404875.7:n.2440del
ENST00000423007.6:c.1957del	ENSP00000404119.2:p.Leu653Ter
ENST00000677295.2:c.*2244del	ENSP00000504346.2:n.*2244del
ENST00000678264.2:c.*2083del	ENSP00000503157.2:n.*2083del
ENST00000682070.1:n.2291-81del
ENST00000682813.1:n.2304del
ENST00000683392.1:n.4573-81del
ENST00000683712.1:n.2305del
ENST00000683900.1:n.3800del
ENST00000684062.1:n.2566del
ENST00000684579.1:n.3746del
ENST00000684679.1:n.1127del
ENST00000341012.12:c.1738del	ENSP00000343034.7:p.Leu580Ter
ENST00000372220.5:c.769del	ENSP00000361294.5:p.Leu257Ter
ENST00000372228.9:c.1966del	ENSP00000361302.3:p.Leu656Ter
ENST00000402686.8:c.1900del MANE Select	ENSP00000385797.4:p.Leu634Ter
ENST00000676640.1:c.1900del	ENSP00000503281.1:p.Leu634Ter
ENST00000676803.1:c.961del	ENSP00000503093.1:p.Leu321Ter
ENST00000676835.1:c.*1115del	ENSP00000502911.1:n.*1115del
ENST00000677029.1:c.1444del	ENSP00000502936.1:p.Leu482Ter
ENST00000677099.1:c.*1610del	ENSP00000504553.1:n.*1610del
ENST00000677216.1:c.1549del	ENSP00000503772.1:p.Leu517Ter
ENST00000677221.1:n.925del
ENST00000677295.1:c.*1203-81del	ENSP00000504346.1:n.*1203-81del
ENST00000677444.1:c.1845del
ENST00000677586.1:n.1267del
ENST00000677626.1:c.1549del	ENSP00000503552.1:p.Leu517Ter
ENST00000677853.1:c.*908del	ENSP00000503488.1:n.*908del
ENST00000678202.1:n.1059del
ENST00000678264.1:c.*1277del	ENSP00000503157.1:n.*1277del
ENST00000678303.1:c.1810del	ENSP00000503696.1:p.Leu604Ter
ENST00000678366.1:c.*2149del	ENSP00000504353.1:n.*2149del
ENST00000678546.1:c.*1845del	ENSP00000503062.1:n.*1845del
ENST00000678548.1:c.*2039del	ENSP00000503934.1:n.*2039del
ENST00000678626.1:n.1736del
ENST00000678739.1:c.*2147-81del	ENSP00000503806.1:n.*2147-81del
ENST00000678833.1:c.*1652del	ENSP00000503893.1:n.*1652del
ENST00000679023.1:c.1738del	ENSP00000503718.1:p.Leu580Ter
ENST00000679076.1:c.1519del
ENST00000679111.1:c.*656del	ENSP00000504257.1:n.*656del
ENST00000679189.1:c.1549del	ENSP00000503356.1:p.Leu517Ter
ENST00000341012.11:c.1738del	ENSP00000343034.7:p.Leu580Ter
ENST00000372220.4:c.763del	ENSP00000361294.4:p.Leu255Ter
ENST00000372228.7:c.1966del	ENSP00000361302.3:p.Leu656Ter
ENST00000402686.7:c.1900del	ENSP00000385797.3:p.Leu634Ter
ENST00000404875.6:c.1549del	ENSP00000384531.2:p.Leu517Ter
ENST00000423007.5:c.1900del	ENSP00000404119.1:p.Leu634Ter
ENST00000485278.5:n.2450del
ENST00000494883.1:n.443del
NM_001077365.1:c.1900del	NP_001070833.1:p.Leu634Ter
NM_001077366.1:c.1738del	NP_001070834.1:p.Leu580Ter
NM_001136113.1:c.1900del	NP_001129585.1:p.Leu634Ter
NM_001136114.1:c.1549del	NP_001129586.1:p.Leu517Ter
NM_007171.3:c.1966del	NP_009102.3:p.Leu656Ter
XM_005272156.1:c.1966del	XP_005272213.1:p.Leu656Ter
XM_005272158.1:c.1804del	XP_005272215.1:p.Leu602Ter
XM_005272159.1:c.1615del	XP_005272216.1:p.Leu539Ter
XM_005272162.1:c.769del	XP_005272219.1:p.Leu257Ter
XM_006716932.1:c.1615del	XP_006716995.1:p.Leu539Ter
XM_011518140.1:c.1819del	XP_011516442.1:p.Leu607Ter
XM_011518141.1:c.1753del	XP_011516443.1:p.Leu585Ter
XM_011518142.1:c.1657del	XP_011516444.1:p.Leu553Ter
XM_011518143.1:c.1651del	XP_011516445.1:p.Leu551Ter
XM_011518145.1:c.1510del	XP_011516447.1:p.Leu504Ter
XM_011518147.1:c.838del	XP_011516449.1:p.Leu280Ter
XR_929703.1:n.2142del
NM_001353193.1:c.1966del	NP_001340122.1:p.Leu656Ter
NM_001353194.1:c.1738del	NP_001340123.1:p.Leu580Ter
NM_001353195.1:c.1549del	NP_001340124.1:p.Leu517Ter
NM_001353196.1:c.1810del	NP_001340125.1:p.Leu604Ter
NM_001353197.1:c.1804del	NP_001340126.1:p.Leu602Ter
NM_001353198.1:c.1804del	NP_001340127.1:p.Leu602Ter
NM_001353199.1:c.1615del	NP_001340128.1:p.Leu539Ter
NM_001353200.1:c.1444del	NP_001340129.1:p.Leu482Ter
NR_148391.1:n.1950del
NR_148392.1:n.2168del
NR_148393.1:n.2089del
NR_148394.1:n.1843del
NR_148395.1:n.2241del
NR_148396.1:n.1875del
NR_148397.1:n.2000del
NR_148398.1:n.1955del
NR_148399.1:n.2481del
NR_148400.1:n.2080del
XM_005272162.3:c.769del	XP_005272219.1:p.Leu257Ter
XM_006716932.2:c.1615del	XP_006716995.1:p.Leu539Ter
XM_011518140.2:c.1819del	XP_011516442.1:p.Leu607Ter
XM_011518141.2:c.1753del	XP_011516443.1:p.Leu585Ter
XM_011518142.2:c.1657del	XP_011516444.1:p.Leu553Ter
XM_011518143.2:c.1651del	XP_011516445.1:p.Leu551Ter
XM_011518145.2:c.1510del	XP_011516447.1:p.Leu504Ter
XM_017014205.2:c.769del	XP_016869694.1:p.Leu257Ter
XM_024447380.1:c.769del	XP_024303148.1:p.Leu257Ter
XM_024447381.1:c.1075del	XP_024303149.1:p.Leu359Ter
XM_024447382.1:c.769del	XP_024303150.1:p.Leu257Ter
XR_001746160.2:n.2070del
XR_001746162.2:n.2275del
XR_001746164.1:n.1992del
XR_001746166.2:n.2287del
NM_001077365.2:c.1900del MANE Select	NP_001070833.1:p.Leu634Ter
NM_001077366.2:c.1738del	NP_001070834.1:p.Leu580Ter
NM_001136113.2:c.1900del	NP_001129585.1:p.Leu634Ter
NM_001136114.2:c.1549del	NP_001129586.1:p.Leu517Ter
NM_001353193.2:c.1966del	NP_001340122.2:p.Leu656Ter
NM_001353194.2:c.1738del	NP_001340123.1:p.Leu580Ter
NM_001353195.2:c.1549del	NP_001340124.1:p.Leu517Ter
NM_001353196.2:c.1810del	NP_001340125.1:p.Leu604Ter
NM_001353197.2:c.1804del	NP_001340126.2:p.Leu602Ter
NM_001353198.2:c.1804del	NP_001340127.2:p.Leu602Ter
NM_001353199.2:c.1615del	NP_001340128.2:p.Leu539Ter
NM_001353200.2:c.1444del	NP_001340129.1:p.Leu482Ter
NM_001374689.1:c.1888del	NP_001361618.1:p.Leu630Ter
NM_001374690.1:c.1681del	NP_001361619.1:p.Leu561Ter
NM_001374691.1:c.1549del	NP_001361620.1:p.Leu517Ter
NM_001374692.1:c.1549del	NP_001361621.1:p.Leu517Ter
NM_001374693.1:c.1549del	NP_001361622.1:p.Leu517Ter
NM_001374695.1:c.1510del	NP_001361624.1:p.Leu504Ter
NM_007171.4:c.1966del	NP_009102.4:p.Leu656Ter
NR_148391.2:n.1934del
NR_148392.2:n.2152del
NR_148393.2:n.2073del
NR_148394.2:n.1827del
NR_148395.2:n.2225del
NR_148396.2:n.1859del
NR_148397.2:n.1984del
NR_148398.2:n.1939del
NR_148399.2:n.2465del
NR_148400.2:n.2064del