Canonical Allele Identifier: CA1129603038

Gene: POMT1

Linked Data

• dbSNP Id: rs1950300205
• gnomAD v3: 9-131523110-AAG-A
• gnomAD v4: 9-131523110-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523113_131523114del , CM000671.2:g.131523113_131523114del	GRCh38
NC_000009.11:g.134398500_134398501del , CM000671.1:g.134398500_134398501del	GRCh37
NC_000009.10:g.133388321_133388322del	NCBI36
NG_008896.1:g.25212_25213del
NG_008896.2:g.25212_25213del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.*7_*8del	ENSP00000343034.7:n.*7_*8del
ENST00000404875.7:n.2725_2726del
ENST00000677295.2:c.*2529_*2530del	ENSP00000504346.2:n.*2529_*2530del
ENST00000678264.2:c.*2368_*2369del	ENSP00000503157.2:n.*2368_*2369del
ENST00000682070.1:n.2495_2496del
ENST00000682639.1:c.182_183del
ENST00000682813.1:n.2582_2583del
ENST00000683231.1:c.182_183del
ENST00000683392.1:n.4777_4778del
ENST00000683900.1:n.4085_4086del
ENST00000684062.1:n.2851_2852del
ENST00000684399.1:c.182_183del
ENST00000684579.1:n.4031_4032del
ENST00000341012.12:c.*7_*8del	ENSP00000343034.7:n.*7_*8del
ENST00000372220.5:c.*7_*8del	ENSP00000361294.5:n.*7_*8del
ENST00000372228.9:c.*7_*8del	ENSP00000361302.3:n.*7_*8del
ENST00000402686.8:c.*7_*8del MANE Select	ENSP00000385797.4:n.*7_*8del
ENST00000676640.1:c.*7_*8del	ENSP00000503281.1:n.*7_*8del
ENST00000676803.1:c.*7_*8del	ENSP00000503093.1:n.*7_*8del
ENST00000676835.1:c.*1400_*1401del	ENSP00000502911.1:n.*1400_*1401del
ENST00000677029.1:c.*7_*8del	ENSP00000502936.1:n.*7_*8del
ENST00000677099.1:c.*1895_*1896del	ENSP00000504553.1:n.*1895_*1896del
ENST00000677216.1:c.*7_*8del	ENSP00000503772.1:n.*7_*8del
ENST00000677295.1:c.*1407_*1408del	ENSP00000504346.1:n.*1407_*1408del
ENST00000677444.1:c.2130_2131del
ENST00000677586.1:n.1552_1553del
ENST00000677626.1:c.*7_*8del	ENSP00000503552.1:n.*7_*8del
ENST00000677853.1:c.*1193_*1194del	ENSP00000503488.1:n.*1193_*1194del
ENST00000678303.1:c.*7_*8del	ENSP00000503696.1:n.*7_*8del
ENST00000678366.1:c.*2434_*2435del	ENSP00000504353.1:n.*2434_*2435del
ENST00000678546.1:c.*2130_*2131del	ENSP00000503062.1:n.*2130_*2131del
ENST00000678548.1:c.*2324_*2325del	ENSP00000503934.1:n.*2324_*2325del
ENST00000678626.1:n.2021_2022del
ENST00000678739.1:c.*2351_*2352del	ENSP00000503806.1:n.*2351_*2352del
ENST00000678833.1:c.*1937_*1938del	ENSP00000503893.1:n.*1937_*1938del
ENST00000679023.1:c.*7_*8del	ENSP00000503718.1:n.*7_*8del
ENST00000679076.1:c.1804_1805del
ENST00000679111.1:c.*941_*942del	ENSP00000504257.1:n.*941_*942del
ENST00000679189.1:c.*7_*8del	ENSP00000503356.1:n.*7_*8del
ENST00000341012.11:c.*7_*8del	ENSP00000343034.7:n.*7_*8del
ENST00000372220.4:c.1048_1049del	ENSP00000361294.4:n.1048_1049del
ENST00000372228.7:c.*7_*8del	ENSP00000361302.3:n.*7_*8del
ENST00000402686.7:c.*7_*8del	ENSP00000385797.3:n.*7_*8del
ENST00000404875.6:c.*7_*8del	ENSP00000384531.2:n.*7_*8del
ENST00000423007.5:c.*7_*8del	ENSP00000404119.1:n.*7_*8del
ENST00000485278.5:n.2735_2736del
NM_001077365.1:c.*7_*8del	NP_001070833.1:n.*7_*8del
NM_001077366.1:c.*7_*8del	NP_001070834.1:n.*7_*8del
NM_001136113.1:c.*7_*8del	NP_001129585.1:n.*7_*8del
NM_001136114.1:c.*7_*8del	NP_001129586.1:n.*7_*8del
NM_007171.3:c.*7_*8del	NP_009102.3:n.*7_*8del
XM_005272156.1:c.*7_*8del	XP_005272213.1:n.*7_*8del
XM_005272158.1:c.*7_*8del	XP_005272215.1:n.*7_*8del
XM_005272159.1:c.*7_*8del	XP_005272216.1:n.*7_*8del
XM_005272162.1:c.*7_*8del	XP_005272219.1:n.*7_*8del
XM_006716932.1:c.*7_*8del	XP_006716995.1:n.*7_*8del
XM_011518140.1:c.*7_*8del	XP_011516442.1:n.*7_*8del
XM_011518141.1:c.*7_*8del	XP_011516443.1:n.*7_*8del
XM_011518142.1:c.*7_*8del	XP_011516444.1:n.*7_*8del
XM_011518143.1:c.*7_*8del	XP_011516445.1:n.*7_*8del
XM_011518145.1:c.*7_*8del	XP_011516447.1:n.*7_*8del
XM_011518147.1:c.*7_*8del	XP_011516449.1:n.*7_*8del
XR_929703.1:n.2427_2428del
NM_001353193.1:c.*7_*8del	NP_001340122.1:n.*7_*8del
NM_001353194.1:c.*7_*8del	NP_001340123.1:n.*7_*8del
NM_001353195.1:c.*7_*8del	NP_001340124.1:n.*7_*8del
NM_001353196.1:c.*7_*8del	NP_001340125.1:n.*7_*8del
NM_001353197.1:c.*7_*8del	NP_001340126.1:n.*7_*8del
NM_001353198.1:c.*7_*8del	NP_001340127.1:n.*7_*8del
NM_001353199.1:c.*7_*8del	NP_001340128.1:n.*7_*8del
NM_001353200.1:c.*7_*8del	NP_001340129.1:n.*7_*8del
NR_148391.1:n.2235_2236del
NR_148392.1:n.2453_2454del
NR_148393.1:n.2374_2375del
NR_148394.1:n.2128_2129del
NR_148395.1:n.2526_2527del
NR_148396.1:n.2160_2161del
NR_148397.1:n.2285_2286del
NR_148398.1:n.2240_2241del
NR_148399.1:n.2766_2767del
NR_148400.1:n.2365_2366del
XM_005272162.3:c.*7_*8del	XP_005272219.1:n.*7_*8del
XM_006716932.2:c.*7_*8del	XP_006716995.1:n.*7_*8del
XM_011518140.2:c.*7_*8del	XP_011516442.1:n.*7_*8del
XM_011518141.2:c.*7_*8del	XP_011516443.1:n.*7_*8del
XM_011518142.2:c.*7_*8del	XP_011516444.1:n.*7_*8del
XM_011518143.2:c.*7_*8del	XP_011516445.1:n.*7_*8del
XM_011518145.2:c.*7_*8del	XP_011516447.1:n.*7_*8del
XM_017014205.2:c.*7_*8del	XP_016869694.1:n.*7_*8del
XM_024447380.1:c.*7_*8del	XP_024303148.1:n.*7_*8del
XM_024447381.1:c.*7_*8del	XP_024303149.1:n.*7_*8del
XM_024447382.1:c.*7_*8del	XP_024303150.1:n.*7_*8del
XR_001746160.2:n.2355_2356del
XR_001746162.2:n.2560_2561del
XR_001746164.1:n.2277_2278del
XR_001746166.2:n.2572_2573del
NM_001077365.2:c.*7_*8del MANE Select	NP_001070833.1:n.*7_*8del
NM_001077366.2:c.*7_*8del	NP_001070834.1:n.*7_*8del
NM_001136113.2:c.*7_*8del	NP_001129585.1:n.*7_*8del
NM_001136114.2:c.*7_*8del	NP_001129586.1:n.*7_*8del
NM_001353193.2:c.*7_*8del	NP_001340122.2:n.*7_*8del
NM_001353194.2:c.*7_*8del	NP_001340123.1:n.*7_*8del
NM_001353195.2:c.*7_*8del	NP_001340124.1:n.*7_*8del
NM_001353196.2:c.*7_*8del	NP_001340125.1:n.*7_*8del
NM_001353197.2:c.*7_*8del	NP_001340126.2:n.*7_*8del
NM_001353198.2:c.*7_*8del	NP_001340127.2:n.*7_*8del
NM_001353199.2:c.*7_*8del	NP_001340128.2:n.*7_*8del
NM_001353200.2:c.*7_*8del	NP_001340129.1:n.*7_*8del
NM_001374689.1:c.*7_*8del	NP_001361618.1:n.*7_*8del
NM_001374690.1:c.*7_*8del	NP_001361619.1:n.*7_*8del
NM_001374691.1:c.*7_*8del	NP_001361620.1:n.*7_*8del
NM_001374692.1:c.*7_*8del	NP_001361621.1:n.*7_*8del
NM_001374693.1:c.*7_*8del	NP_001361622.1:n.*7_*8del
NM_001374695.1:c.*7_*8del	NP_001361624.1:n.*7_*8del
NM_007171.4:c.*7_*8del	NP_009102.4:n.*7_*8del
NR_148391.2:n.2219_2220del
NR_148392.2:n.2437_2438del
NR_148393.2:n.2358_2359del
NR_148394.2:n.2112_2113del
NR_148395.2:n.2510_2511del
NR_148396.2:n.2144_2145del
NR_148397.2:n.2269_2270del
NR_148398.2:n.2224_2225del
NR_148399.2:n.2750_2751del
NR_148400.2:n.2349_2350del