Canonical Allele Identifier: CA590755607

Gene: POMT1

Linked Data

• dbSNP Id: rs1564397405
• gnomAD v2: 9-134398771-T-TC
• gnomAD v3: 9-131523384-T-TC
• gnomAD v4: 9-131523384-T-TC
• MyVariant Identifiers: chr9:g.134398771_134398772insC (hg19) ; chr9:g.131523384_131523385insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523384_131523385insC , CM000671.2:g.131523384_131523385insC	GRCh38
NC_000009.11:g.134398771_134398772insC , CM000671.1:g.134398771_134398772insC	GRCh37
NC_000009.10:g.133388592_133388593insC	NCBI36
NG_008896.1:g.25483_25484insC
NG_008896.2:g.25483_25484insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.*278_*279insC	ENSP00000343034.7:n.*278_*279insC
ENST00000404875.7:n.2996_2997insC
ENST00000677295.2:c.*2800_*2801insC	ENSP00000504346.2:n.*2800_*2801insC
ENST00000678264.2:c.*2639_*2640insC	ENSP00000503157.2:n.*2639_*2640insC
ENST00000682070.1:n.2766_2767insC
ENST00000682639.1:c.240-79_240-78insC
ENST00000682813.1:n.2853_2854insC
ENST00000683231.1:c.306_307insC
ENST00000683392.1:n.5048_5049insC
ENST00000683900.1:n.4356_4357insC
ENST00000684062.1:n.3122_3123insC
ENST00000684399.1:c.271_272insC
ENST00000684579.1:n.4302_4303insC
ENST00000341012.12:c.*278_*279insC	ENSP00000343034.7:n.*278_*279insC
ENST00000372220.5:c.*278_*279insC	ENSP00000361294.5:n.*278_*279insC
ENST00000372228.9:c.*278_*279insC	ENSP00000361302.3:n.*278_*279insC
ENST00000402686.8:c.*278_*279insC MANE Select	ENSP00000385797.4:n.*278_*279insC
ENST00000676640.1:c.*278_*279insC	ENSP00000503281.1:n.*278_*279insC
ENST00000676803.1:c.*278_*279insC	ENSP00000503093.1:n.*278_*279insC
ENST00000676835.1:c.*1671_*1672insC	ENSP00000502911.1:n.*1671_*1672insC
ENST00000677099.1:c.*2166_*2167insC	ENSP00000504553.1:n.*2166_*2167insC
ENST00000677216.1:c.*278_*279insC	ENSP00000503772.1:n.*278_*279insC
ENST00000677295.1:c.*1678_*1679insC	ENSP00000504346.1:n.*1678_*1679insC
ENST00000677444.1:c.2401_2402insC
ENST00000677626.1:c.*278_*279insC	ENSP00000503552.1:n.*278_*279insC
ENST00000677853.1:c.*1464_*1465insC	ENSP00000503488.1:n.*1464_*1465insC
ENST00000678303.1:c.*278_*279insC	ENSP00000503696.1:n.*278_*279insC
ENST00000678366.1:c.*2705_*2706insC	ENSP00000504353.1:n.*2705_*2706insC
ENST00000678546.1:c.*2401_*2402insC	ENSP00000503062.1:n.*2401_*2402insC
ENST00000678548.1:c.*2595_*2596insC	ENSP00000503934.1:n.*2595_*2596insC
ENST00000678626.1:n.2292_2293insC
ENST00000678739.1:c.*2622_*2623insC	ENSP00000503806.1:n.*2622_*2623insC
ENST00000678833.1:c.*2208_*2209insC	ENSP00000503893.1:n.*2208_*2209insC
ENST00000679023.1:c.*102_*103insC	ENSP00000503718.1:n.*102_*103insC
ENST00000679076.1:c.2075_2076insC
ENST00000679111.1:c.*1212_*1213insC	ENSP00000504257.1:n.*1212_*1213insC
ENST00000341012.11:c.*278_*279insC	ENSP00000343034.7:n.*278_*279insC
ENST00000372220.4:c.1319_1320insC	ENSP00000361294.4:n.1319_1320insC
ENST00000372228.7:c.*278_*279insC	ENSP00000361302.3:n.*278_*279insC
ENST00000402686.7:c.*278_*279insC	ENSP00000385797.3:n.*278_*279insC
ENST00000404875.6:c.*278_*279insC	ENSP00000384531.2:n.*278_*279insC
ENST00000423007.5:c.*278_*279insC	ENSP00000404119.1:n.*278_*279insC
ENST00000485278.5:n.3006_3007insC
NM_001077365.1:c.*278_*279insC	NP_001070833.1:n.*278_*279insC
NM_001077366.1:c.*278_*279insC	NP_001070834.1:n.*278_*279insC
NM_001136113.1:c.*278_*279insC	NP_001129585.1:n.*278_*279insC
NM_001136114.1:c.*278_*279insC	NP_001129586.1:n.*278_*279insC
NM_007171.3:c.*278_*279insC	NP_009102.3:n.*278_*279insC
XM_005272156.1:c.*278_*279insC	XP_005272213.1:n.*278_*279insC
XM_005272158.1:c.*278_*279insC	XP_005272215.1:n.*278_*279insC
XM_005272159.1:c.*278_*279insC	XP_005272216.1:n.*278_*279insC
XM_005272162.1:c.*278_*279insC	XP_005272219.1:n.*278_*279insC
XM_006716932.1:c.*278_*279insC	XP_006716995.1:n.*278_*279insC
XM_011518140.1:c.*278_*279insC	XP_011516442.1:n.*278_*279insC
XM_011518141.1:c.*278_*279insC	XP_011516443.1:n.*278_*279insC
XM_011518142.1:c.*278_*279insC	XP_011516444.1:n.*278_*279insC
XM_011518143.1:c.*278_*279insC	XP_011516445.1:n.*278_*279insC
XM_011518145.1:c.*278_*279insC	XP_011516447.1:n.*278_*279insC
XM_011518147.1:c.*278_*279insC	XP_011516449.1:n.*278_*279insC
XR_929703.1:n.2522_2523insC
NM_001353193.1:c.*278_*279insC	NP_001340122.1:n.*278_*279insC
NM_001353194.1:c.*278_*279insC	NP_001340123.1:n.*278_*279insC
NM_001353195.1:c.*278_*279insC	NP_001340124.1:n.*278_*279insC
NM_001353196.1:c.*278_*279insC	NP_001340125.1:n.*278_*279insC
NM_001353197.1:c.*278_*279insC	NP_001340126.1:n.*278_*279insC
NM_001353198.1:c.*278_*279insC	NP_001340127.1:n.*278_*279insC
NM_001353199.1:c.*278_*279insC	NP_001340128.1:n.*278_*279insC
NM_001353200.1:c.*278_*279insC	NP_001340129.1:n.*278_*279insC
NR_148391.1:n.2330_2331insC
NR_148392.1:n.2548_2549insC
NR_148393.1:n.2645_2646insC
NR_148394.1:n.2399_2400insC
NR_148395.1:n.2797_2798insC
NR_148396.1:n.2431_2432insC
NR_148397.1:n.2556_2557insC
NR_148398.1:n.2511_2512insC
NR_148399.1:n.2861_2862insC
NR_148400.1:n.2636_2637insC
XM_005272162.3:c.*278_*279insC	XP_005272219.1:n.*278_*279insC
XM_006716932.2:c.*278_*279insC	XP_006716995.1:n.*278_*279insC
XM_011518140.2:c.*278_*279insC	XP_011516442.1:n.*278_*279insC
XM_011518141.2:c.*278_*279insC	XP_011516443.1:n.*278_*279insC
XM_011518142.2:c.*278_*279insC	XP_011516444.1:n.*278_*279insC
XM_011518143.2:c.*278_*279insC	XP_011516445.1:n.*278_*279insC
XM_011518145.2:c.*278_*279insC	XP_011516447.1:n.*278_*279insC
XM_017014205.2:c.*278_*279insC	XP_016869694.1:n.*278_*279insC
XM_024447380.1:c.*278_*279insC	XP_024303148.1:n.*278_*279insC
XM_024447381.1:c.*278_*279insC	XP_024303149.1:n.*278_*279insC
XM_024447382.1:c.*278_*279insC	XP_024303150.1:n.*278_*279insC
XR_001746160.2:n.2450_2451insC
XR_001746162.2:n.2831_2832insC
XR_001746164.1:n.2548_2549insC
XR_001746166.2:n.2667_2668insC
NM_001077365.2:c.*278_*279insC MANE Select	NP_001070833.1:n.*278_*279insC
NM_001077366.2:c.*278_*279insC	NP_001070834.1:n.*278_*279insC
NM_001136113.2:c.*278_*279insC	NP_001129585.1:n.*278_*279insC
NM_001136114.2:c.*278_*279insC	NP_001129586.1:n.*278_*279insC
NM_001353193.2:c.*278_*279insC	NP_001340122.2:n.*278_*279insC
NM_001353194.2:c.*278_*279insC	NP_001340123.1:n.*278_*279insC
NM_001353195.2:c.*278_*279insC	NP_001340124.1:n.*278_*279insC
NM_001353196.2:c.*278_*279insC	NP_001340125.1:n.*278_*279insC
NM_001353197.2:c.*278_*279insC	NP_001340126.2:n.*278_*279insC
NM_001353198.2:c.*278_*279insC	NP_001340127.2:n.*278_*279insC
NM_001353199.2:c.*278_*279insC	NP_001340128.2:n.*278_*279insC
NM_001353200.2:c.*278_*279insC	NP_001340129.1:n.*278_*279insC
NM_001374689.1:c.*278_*279insC	NP_001361618.1:n.*278_*279insC
NM_001374690.1:c.*278_*279insC	NP_001361619.1:n.*278_*279insC
NM_001374691.1:c.*278_*279insC	NP_001361620.1:n.*278_*279insC
NM_001374692.1:c.*278_*279insC	NP_001361621.1:n.*278_*279insC
NM_001374693.1:c.*278_*279insC	NP_001361622.1:n.*278_*279insC
NM_001374695.1:c.*278_*279insC	NP_001361624.1:n.*278_*279insC
NM_007171.4:c.*278_*279insC	NP_009102.4:n.*278_*279insC
NR_148391.2:n.2314_2315insC
NR_148392.2:n.2532_2533insC
NR_148393.2:n.2629_2630insC
NR_148394.2:n.2383_2384insC
NR_148395.2:n.2781_2782insC
NR_148396.2:n.2415_2416insC
NR_148397.2:n.2540_2541insC
NR_148398.2:n.2495_2496insC
NR_148399.2:n.2845_2846insC
NR_148400.2:n.2620_2621insC