Canonical Allele Identifier: CA2692219433

Gene: POMT1

Linked Data

• gnomAD v4: 9-131521926-CAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521929_131521931del , CM000671.2:g.131521929_131521931del	GRCh38
NC_000009.11:g.134397316_134397318del , CM000671.1:g.134397316_134397318del	GRCh37
NC_000009.10:g.133387137_133387139del	NCBI36
NG_008896.1:g.24028_24030del
NG_008896.2:g.24028_24030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1664-118_1664-116del	ENSP00000343034.7:n.1664-118_1664-116del
ENST00000404875.7:n.2366-118_2366-116del
ENST00000423007.6:c.1883-118_1883-116del	ENSP00000404119.2:n.1883-118_1883-116del
ENST00000677295.2:c.*2170-118_*2170-116del	ENSP00000504346.2:n.*2170-118_*2170-116del
ENST00000678264.2:c.*2009-118_*2009-116del	ENSP00000503157.2:n.*2009-118_*2009-116del
ENST00000682070.1:n.2291-273_2291-271del
ENST00000682813.1:n.2230-118_2230-116del
ENST00000683392.1:n.4573-273_4573-271del
ENST00000683712.1:n.2231-118_2231-116del
ENST00000683900.1:n.3726-118_3726-116del
ENST00000684062.1:n.2492-118_2492-116del
ENST00000684579.1:n.3672-118_3672-116del
ENST00000684679.1:n.1053-118_1053-116del
ENST00000341012.12:c.1664-118_1664-116del	ENSP00000343034.7:n.1664-118_1664-116del
ENST00000372220.5:c.695-118_695-116del	ENSP00000361294.5:n.695-118_695-116del
ENST00000372228.9:c.1892-118_1892-116del	ENSP00000361302.3:n.1892-118_1892-116del
ENST00000402686.8:c.1826-118_1826-116del MANE Select	ENSP00000385797.4:n.1826-118_1826-116del
ENST00000676640.1:c.1826-118_1826-116del	ENSP00000503281.1:n.1826-118_1826-116del
ENST00000676803.1:c.887-118_887-116del	ENSP00000503093.1:n.887-118_887-116del
ENST00000676835.1:c.*1041-118_*1041-116del	ENSP00000502911.1:n.*1041-118_*1041-116del
ENST00000677029.1:c.1370-118_1370-116del	ENSP00000502936.1:n.1370-118_1370-116del
ENST00000677099.1:c.*1536-118_*1536-116del	ENSP00000504553.1:n.*1536-118_*1536-116del
ENST00000677216.1:c.1475-118_1475-116del	ENSP00000503772.1:n.1475-118_1475-116del
ENST00000677221.1:n.851-118_851-116del
ENST00000677295.1:c.*1203-273_*1203-271del	ENSP00000504346.1:n.*1203-273_*1203-271del
ENST00000677444.1:c.1771-118_1771-116del
ENST00000677586.1:n.1193-118_1193-116del
ENST00000677626.1:c.1475-118_1475-116del	ENSP00000503552.1:n.1475-118_1475-116del
ENST00000677853.1:c.*834-118_*834-116del	ENSP00000503488.1:n.*834-118_*834-116del
ENST00000678202.1:n.985-118_985-116del
ENST00000678264.1:c.*1203-118_*1203-116del	ENSP00000503157.1:n.*1203-118_*1203-116del
ENST00000678303.1:c.1736-118_1736-116del	ENSP00000503696.1:n.1736-118_1736-116del
ENST00000678366.1:c.*2075-118_*2075-116del	ENSP00000504353.1:n.*2075-118_*2075-116del
ENST00000678546.1:c.*1771-118_*1771-116del	ENSP00000503062.1:n.*1771-118_*1771-116del
ENST00000678548.1:c.*1898-51_*1898-49del	ENSP00000503934.1:n.*1898-51_*1898-49del
ENST00000678626.1:n.1662-118_1662-116del
ENST00000678739.1:c.*2147-273_*2147-271del	ENSP00000503806.1:n.*2147-273_*2147-271del
ENST00000678833.1:c.*1578-118_*1578-116del	ENSP00000503893.1:n.*1578-118_*1578-116del
ENST00000679023.1:c.1664-118_1664-116del	ENSP00000503718.1:n.1664-118_1664-116del
ENST00000679076.1:c.1445-118_1445-116del
ENST00000679111.1:c.*582-118_*582-116del	ENSP00000504257.1:n.*582-118_*582-116del
ENST00000679189.1:c.1475-118_1475-116del	ENSP00000503356.1:n.1475-118_1475-116del
ENST00000341012.11:c.1664-118_1664-116del	ENSP00000343034.7:n.1664-118_1664-116del
ENST00000372220.4:c.689-118_689-116del	ENSP00000361294.4:n.689-118_689-116del
ENST00000372228.7:c.1892-118_1892-116del	ENSP00000361302.3:n.1892-118_1892-116del
ENST00000402686.7:c.1826-118_1826-116del	ENSP00000385797.3:n.1826-118_1826-116del
ENST00000404875.6:c.1475-118_1475-116del	ENSP00000384531.2:n.1475-118_1475-116del
ENST00000423007.5:c.1826-118_1826-116del	ENSP00000404119.1:n.1826-118_1826-116del
ENST00000485278.5:n.2376-118_2376-116del
ENST00000494883.1:n.369-118_369-116del
NM_001077365.1:c.1826-118_1826-116del	NP_001070833.1:n.1826-118_1826-116del
NM_001077366.1:c.1664-118_1664-116del	NP_001070834.1:n.1664-118_1664-116del
NM_001136113.1:c.1826-118_1826-116del	NP_001129585.1:n.1826-118_1826-116del
NM_001136114.1:c.1475-118_1475-116del	NP_001129586.1:n.1475-118_1475-116del
NM_007171.3:c.1892-118_1892-116del	NP_009102.3:n.1892-118_1892-116del
XM_005272156.1:c.1892-118_1892-116del	XP_005272213.1:n.1892-118_1892-116del
XM_005272158.1:c.1730-118_1730-116del	XP_005272215.1:n.1730-118_1730-116del
XM_005272159.1:c.1541-118_1541-116del	XP_005272216.1:n.1541-118_1541-116del
XM_005272162.1:c.695-118_695-116del	XP_005272219.1:n.695-118_695-116del
XM_006716932.1:c.1541-118_1541-116del	XP_006716995.1:n.1541-118_1541-116del
XM_011518140.1:c.1745-118_1745-116del	XP_011516442.1:n.1745-118_1745-116del
XM_011518141.1:c.1679-118_1679-116del	XP_011516443.1:n.1679-118_1679-116del
XM_011518142.1:c.1583-118_1583-116del	XP_011516444.1:n.1583-118_1583-116del
XM_011518143.1:c.1577-118_1577-116del	XP_011516445.1:n.1577-118_1577-116del
XM_011518145.1:c.1436-118_1436-116del	XP_011516447.1:n.1436-118_1436-116del
XM_011518147.1:c.764-118_764-116del	XP_011516449.1:n.764-118_764-116del
XR_929703.1:n.2068-118_2068-116del
NM_001353193.1:c.1892-118_1892-116del	NP_001340122.1:n.1892-118_1892-116del
NM_001353194.1:c.1664-118_1664-116del	NP_001340123.1:n.1664-118_1664-116del
NM_001353195.1:c.1475-118_1475-116del	NP_001340124.1:n.1475-118_1475-116del
NM_001353196.1:c.1736-118_1736-116del	NP_001340125.1:n.1736-118_1736-116del
NM_001353197.1:c.1730-118_1730-116del	NP_001340126.1:n.1730-118_1730-116del
NM_001353198.1:c.1730-118_1730-116del	NP_001340127.1:n.1730-118_1730-116del
NM_001353199.1:c.1541-118_1541-116del	NP_001340128.1:n.1541-118_1541-116del
NM_001353200.1:c.1370-118_1370-116del	NP_001340129.1:n.1370-118_1370-116del
NR_148391.1:n.1876-118_1876-116del
NR_148392.1:n.2094-118_2094-116del
NR_148393.1:n.2015-118_2015-116del
NR_148394.1:n.1769-118_1769-116del
NR_148395.1:n.2167-118_2167-116del
NR_148396.1:n.1801-118_1801-116del
NR_148397.1:n.1926-118_1926-116del
NR_148398.1:n.1881-118_1881-116del
NR_148399.1:n.2407-118_2407-116del
NR_148400.1:n.2006-118_2006-116del
XM_005272162.3:c.695-118_695-116del	XP_005272219.1:n.695-118_695-116del
XM_006716932.2:c.1541-118_1541-116del	XP_006716995.1:n.1541-118_1541-116del
XM_011518140.2:c.1745-118_1745-116del	XP_011516442.1:n.1745-118_1745-116del
XM_011518141.2:c.1679-118_1679-116del	XP_011516443.1:n.1679-118_1679-116del
XM_011518142.2:c.1583-118_1583-116del	XP_011516444.1:n.1583-118_1583-116del
XM_011518143.2:c.1577-118_1577-116del	XP_011516445.1:n.1577-118_1577-116del
XM_011518145.2:c.1436-118_1436-116del	XP_011516447.1:n.1436-118_1436-116del
XM_017014205.2:c.695-118_695-116del	XP_016869694.1:n.695-118_695-116del
XM_024447380.1:c.695-118_695-116del	XP_024303148.1:n.695-118_695-116del
XM_024447381.1:c.1001-118_1001-116del	XP_024303149.1:n.1001-118_1001-116del
XM_024447382.1:c.695-118_695-116del	XP_024303150.1:n.695-118_695-116del
XR_001746160.2:n.1996-118_1996-116del
XR_001746162.2:n.2201-118_2201-116del
XR_001746164.1:n.1918-118_1918-116del
XR_001746166.2:n.2213-118_2213-116del
NM_001077365.2:c.1826-118_1826-116del MANE Select	NP_001070833.1:n.1826-118_1826-116del
NM_001077366.2:c.1664-118_1664-116del	NP_001070834.1:n.1664-118_1664-116del
NM_001136113.2:c.1826-118_1826-116del	NP_001129585.1:n.1826-118_1826-116del
NM_001136114.2:c.1475-118_1475-116del	NP_001129586.1:n.1475-118_1475-116del
NM_001353193.2:c.1892-118_1892-116del	NP_001340122.2:n.1892-118_1892-116del
NM_001353194.2:c.1664-118_1664-116del	NP_001340123.1:n.1664-118_1664-116del
NM_001353195.2:c.1475-118_1475-116del	NP_001340124.1:n.1475-118_1475-116del
NM_001353196.2:c.1736-118_1736-116del	NP_001340125.1:n.1736-118_1736-116del
NM_001353197.2:c.1730-118_1730-116del	NP_001340126.2:n.1730-118_1730-116del
NM_001353198.2:c.1730-118_1730-116del	NP_001340127.2:n.1730-118_1730-116del
NM_001353199.2:c.1541-118_1541-116del	NP_001340128.2:n.1541-118_1541-116del
NM_001353200.2:c.1370-118_1370-116del	NP_001340129.1:n.1370-118_1370-116del
NM_001374689.1:c.1814-118_1814-116del	NP_001361618.1:n.1814-118_1814-116del
NM_001374690.1:c.1607-118_1607-116del	NP_001361619.1:n.1607-118_1607-116del
NM_001374691.1:c.1475-118_1475-116del	NP_001361620.1:n.1475-118_1475-116del
NM_001374692.1:c.1475-118_1475-116del	NP_001361621.1:n.1475-118_1475-116del
NM_001374693.1:c.1475-118_1475-116del	NP_001361622.1:n.1475-118_1475-116del
NM_001374695.1:c.1436-118_1436-116del	NP_001361624.1:n.1436-118_1436-116del
NM_007171.4:c.1892-118_1892-116del	NP_009102.4:n.1892-118_1892-116del
NR_148391.2:n.1860-118_1860-116del
NR_148392.2:n.2078-118_2078-116del
NR_148393.2:n.1999-118_1999-116del
NR_148394.2:n.1753-118_1753-116del
NR_148395.2:n.2151-118_2151-116del
NR_148396.2:n.1785-118_1785-116del
NR_148397.2:n.1910-118_1910-116del
NR_148398.2:n.1865-118_1865-116del
NR_148399.2:n.2391-118_2391-116del
NR_148400.2:n.1990-118_1990-116del