Canonical Allele Identifier: CA2692219497

Gene: POMT1

Linked Data

• gnomAD v4: 9-131522040-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522041_131522042del , CM000671.2:g.131522041_131522042del	GRCh38
NC_000009.11:g.134397428_134397429del , CM000671.1:g.134397428_134397429del	GRCh37
NC_000009.10:g.133387249_133387250del	NCBI36
NG_008896.1:g.24140_24141del
NG_008896.2:g.24140_24141del

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1664-6_1664-5del	ENSP00000343034.7:n.1664-6_1664-5del
ENST00000404875.7:n.2366-6_2366-5del
ENST00000423007.6:c.1883-6_1883-5del	ENSP00000404119.2:n.1883-6_1883-5del
ENST00000677295.2:c.*2170-6_*2170-5del	ENSP00000504346.2:n.*2170-6_*2170-5del
ENST00000678264.2:c.*2009-6_*2009-5del	ENSP00000503157.2:n.*2009-6_*2009-5del
ENST00000682070.1:n.2291-161_2291-160del
ENST00000682813.1:n.2230-6_2230-5del
ENST00000683392.1:n.4573-161_4573-160del
ENST00000683712.1:n.2231-6_2231-5del
ENST00000683900.1:n.3726-6_3726-5del
ENST00000684062.1:n.2492-6_2492-5del
ENST00000684579.1:n.3672-6_3672-5del
ENST00000684679.1:n.1053-6_1053-5del
ENST00000341012.12:c.1664-6_1664-5del	ENSP00000343034.7:n.1664-6_1664-5del
ENST00000372220.5:c.695-6_695-5del	ENSP00000361294.5:n.695-6_695-5del
ENST00000372228.9:c.1892-6_1892-5del	ENSP00000361302.3:n.1892-6_1892-5del
ENST00000402686.8:c.1826-6_1826-5del MANE Select	ENSP00000385797.4:n.1826-6_1826-5del
ENST00000676640.1:c.1826-6_1826-5del	ENSP00000503281.1:n.1826-6_1826-5del
ENST00000676803.1:c.887-6_887-5del	ENSP00000503093.1:n.887-6_887-5del
ENST00000676835.1:c.*1041-6_*1041-5del	ENSP00000502911.1:n.*1041-6_*1041-5del
ENST00000677029.1:c.1370-6_1370-5del	ENSP00000502936.1:n.1370-6_1370-5del
ENST00000677099.1:c.*1536-6_*1536-5del	ENSP00000504553.1:n.*1536-6_*1536-5del
ENST00000677216.1:c.1475-6_1475-5del	ENSP00000503772.1:n.1475-6_1475-5del
ENST00000677221.1:n.851-6_851-5del
ENST00000677295.1:c.*1203-161_*1203-160del	ENSP00000504346.1:n.*1203-161_*1203-160de...
ENST00000677444.1:c.1771-6_1771-5del
ENST00000677586.1:n.1193-6_1193-5del
ENST00000677626.1:c.1475-6_1475-5del	ENSP00000503552.1:n.1475-6_1475-5del
ENST00000677853.1:c.*834-6_*834-5del	ENSP00000503488.1:n.*834-6_*834-5del
ENST00000678202.1:n.985-6_985-5del
ENST00000678264.1:c.*1203-6_*1203-5del	ENSP00000503157.1:n.*1203-6_*1203-5del
ENST00000678303.1:c.1736-6_1736-5del	ENSP00000503696.1:n.1736-6_1736-5del
ENST00000678366.1:c.*2075-6_*2075-5del	ENSP00000504353.1:n.*2075-6_*2075-5del
ENST00000678546.1:c.*1771-6_*1771-5del	ENSP00000503062.1:n.*1771-6_*1771-5del
ENST00000678548.1:c.*1959_*1960del	ENSP00000503934.1:n.*1959_*1960del
ENST00000678626.1:n.1662-6_1662-5del
ENST00000678739.1:c.*2147-161_*2147-160del	ENSP00000503806.1:n.*2147-161_*2147-160de...
ENST00000678833.1:c.*1578-6_*1578-5del	ENSP00000503893.1:n.*1578-6_*1578-5del
ENST00000679023.1:c.1664-6_1664-5del	ENSP00000503718.1:n.1664-6_1664-5del
ENST00000679076.1:c.1445-6_1445-5del
ENST00000679111.1:c.*582-6_*582-5del	ENSP00000504257.1:n.*582-6_*582-5del
ENST00000679189.1:c.1475-6_1475-5del	ENSP00000503356.1:n.1475-6_1475-5del
ENST00000341012.11:c.1664-6_1664-5del	ENSP00000343034.7:n.1664-6_1664-5del
ENST00000372220.4:c.689-6_689-5del	ENSP00000361294.4:n.689-6_689-5del
ENST00000372228.7:c.1892-6_1892-5del	ENSP00000361302.3:n.1892-6_1892-5del
ENST00000402686.7:c.1826-6_1826-5del	ENSP00000385797.3:n.1826-6_1826-5del
ENST00000404875.6:c.1475-6_1475-5del	ENSP00000384531.2:n.1475-6_1475-5del
ENST00000423007.5:c.1826-6_1826-5del	ENSP00000404119.1:n.1826-6_1826-5del
ENST00000485278.5:n.2376-6_2376-5del
ENST00000494883.1:n.369-6_369-5del
NM_001077365.1:c.1826-6_1826-5del	NP_001070833.1:n.1826-6_1826-5del
NM_001077366.1:c.1664-6_1664-5del	NP_001070834.1:n.1664-6_1664-5del
NM_001136113.1:c.1826-6_1826-5del	NP_001129585.1:n.1826-6_1826-5del
NM_001136114.1:c.1475-6_1475-5del	NP_001129586.1:n.1475-6_1475-5del
NM_007171.3:c.1892-6_1892-5del	NP_009102.3:n.1892-6_1892-5del
XM_005272156.1:c.1892-6_1892-5del	XP_005272213.1:n.1892-6_1892-5del
XM_005272158.1:c.1730-6_1730-5del	XP_005272215.1:n.1730-6_1730-5del
XM_005272159.1:c.1541-6_1541-5del	XP_005272216.1:n.1541-6_1541-5del
XM_005272162.1:c.695-6_695-5del	XP_005272219.1:n.695-6_695-5del
XM_006716932.1:c.1541-6_1541-5del	XP_006716995.1:n.1541-6_1541-5del
XM_011518140.1:c.1745-6_1745-5del	XP_011516442.1:n.1745-6_1745-5del
XM_011518141.1:c.1679-6_1679-5del	XP_011516443.1:n.1679-6_1679-5del
XM_011518142.1:c.1583-6_1583-5del	XP_011516444.1:n.1583-6_1583-5del
XM_011518143.1:c.1577-6_1577-5del	XP_011516445.1:n.1577-6_1577-5del
XM_011518145.1:c.1436-6_1436-5del	XP_011516447.1:n.1436-6_1436-5del
XM_011518147.1:c.764-6_764-5del	XP_011516449.1:n.764-6_764-5del
XR_929703.1:n.2068-6_2068-5del
NM_001353193.1:c.1892-6_1892-5del	NP_001340122.1:n.1892-6_1892-5del
NM_001353194.1:c.1664-6_1664-5del	NP_001340123.1:n.1664-6_1664-5del
NM_001353195.1:c.1475-6_1475-5del	NP_001340124.1:n.1475-6_1475-5del
NM_001353196.1:c.1736-6_1736-5del	NP_001340125.1:n.1736-6_1736-5del
NM_001353197.1:c.1730-6_1730-5del	NP_001340126.1:n.1730-6_1730-5del
NM_001353198.1:c.1730-6_1730-5del	NP_001340127.1:n.1730-6_1730-5del
NM_001353199.1:c.1541-6_1541-5del	NP_001340128.1:n.1541-6_1541-5del
NM_001353200.1:c.1370-6_1370-5del	NP_001340129.1:n.1370-6_1370-5del
NR_148391.1:n.1876-6_1876-5del
NR_148392.1:n.2094-6_2094-5del
NR_148393.1:n.2015-6_2015-5del
NR_148394.1:n.1769-6_1769-5del
NR_148395.1:n.2167-6_2167-5del
NR_148396.1:n.1801-6_1801-5del
NR_148397.1:n.1926-6_1926-5del
NR_148398.1:n.1881-6_1881-5del
NR_148399.1:n.2407-6_2407-5del
NR_148400.1:n.2006-6_2006-5del
XM_005272162.3:c.695-6_695-5del	XP_005272219.1:n.695-6_695-5del
XM_006716932.2:c.1541-6_1541-5del	XP_006716995.1:n.1541-6_1541-5del
XM_011518140.2:c.1745-6_1745-5del	XP_011516442.1:n.1745-6_1745-5del
XM_011518141.2:c.1679-6_1679-5del	XP_011516443.1:n.1679-6_1679-5del
XM_011518142.2:c.1583-6_1583-5del	XP_011516444.1:n.1583-6_1583-5del
XM_011518143.2:c.1577-6_1577-5del	XP_011516445.1:n.1577-6_1577-5del
XM_011518145.2:c.1436-6_1436-5del	XP_011516447.1:n.1436-6_1436-5del
XM_017014205.2:c.695-6_695-5del	XP_016869694.1:n.695-6_695-5del
XM_024447380.1:c.695-6_695-5del	XP_024303148.1:n.695-6_695-5del
XM_024447381.1:c.1001-6_1001-5del	XP_024303149.1:n.1001-6_1001-5del
XM_024447382.1:c.695-6_695-5del	XP_024303150.1:n.695-6_695-5del
XR_001746160.2:n.1996-6_1996-5del
XR_001746162.2:n.2201-6_2201-5del
XR_001746164.1:n.1918-6_1918-5del
XR_001746166.2:n.2213-6_2213-5del
NM_001077365.2:c.1826-6_1826-5del MANE Select	NP_001070833.1:n.1826-6_1826-5del
NM_001077366.2:c.1664-6_1664-5del	NP_001070834.1:n.1664-6_1664-5del
NM_001136113.2:c.1826-6_1826-5del	NP_001129585.1:n.1826-6_1826-5del
NM_001136114.2:c.1475-6_1475-5del	NP_001129586.1:n.1475-6_1475-5del
NM_001353193.2:c.1892-6_1892-5del	NP_001340122.2:n.1892-6_1892-5del
NM_001353194.2:c.1664-6_1664-5del	NP_001340123.1:n.1664-6_1664-5del
NM_001353195.2:c.1475-6_1475-5del	NP_001340124.1:n.1475-6_1475-5del
NM_001353196.2:c.1736-6_1736-5del	NP_001340125.1:n.1736-6_1736-5del
NM_001353197.2:c.1730-6_1730-5del	NP_001340126.2:n.1730-6_1730-5del
NM_001353198.2:c.1730-6_1730-5del	NP_001340127.2:n.1730-6_1730-5del
NM_001353199.2:c.1541-6_1541-5del	NP_001340128.2:n.1541-6_1541-5del
NM_001353200.2:c.1370-6_1370-5del	NP_001340129.1:n.1370-6_1370-5del
NM_001374689.1:c.1814-6_1814-5del	NP_001361618.1:n.1814-6_1814-5del
NM_001374690.1:c.1607-6_1607-5del	NP_001361619.1:n.1607-6_1607-5del
NM_001374691.1:c.1475-6_1475-5del	NP_001361620.1:n.1475-6_1475-5del
NM_001374692.1:c.1475-6_1475-5del	NP_001361621.1:n.1475-6_1475-5del
NM_001374693.1:c.1475-6_1475-5del	NP_001361622.1:n.1475-6_1475-5del
NM_001374695.1:c.1436-6_1436-5del	NP_001361624.1:n.1436-6_1436-5del
NM_007171.4:c.1892-6_1892-5del	NP_009102.4:n.1892-6_1892-5del
NR_148391.2:n.1860-6_1860-5del
NR_148392.2:n.2078-6_2078-5del
NR_148393.2:n.1999-6_1999-5del
NR_148394.2:n.1753-6_1753-5del
NR_148395.2:n.2151-6_2151-5del
NR_148396.2:n.1785-6_1785-5del
NR_148397.2:n.1910-6_1910-5del
NR_148398.2:n.1865-6_1865-5del
NR_148399.2:n.2391-6_2391-5del
NR_148400.2:n.1990-6_1990-5del