Canonical Allele Identifier: CA860561350

Gene: POMT1

Linked Data

• dbSNP Id: rs1438673405
• gnomAD v3: 9-131523561-G-GGACA
• gnomAD v4: 9-131523561-G-GGACA
• MyVariant Identifiers: chr9:g.134398948_134398949insGACA (hg19) ; chr9:g.131523561_131523562insGACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523563_131523566dup , CM000671.2:g.131523563_131523566dup	GRCh38
NC_000009.11:g.134398950_134398953dup , CM000671.1:g.134398950_134398953dup	GRCh37
NC_000009.10:g.133388771_133388774dup	NCBI36
NG_008896.1:g.25662_25665dup
NG_008896.2:g.25662_25665dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.*457_*460dup	ENSP00000343034.7:n.*457_*460dup
ENST00000404875.7:n.3175_3178dup
ENST00000677295.2:c.*2979_*2982dup	ENSP00000504346.2:n.*2979_*2982dup
ENST00000678264.2:c.*2818_*2821dup	ENSP00000503157.2:n.*2818_*2821dup
ENST00000682639.1:c.340_343dup
ENST00000682813.1:n.3032_3035dup
ENST00000683231.1:c.485_488dup
ENST00000683392.1:n.5227_5230dup
ENST00000683900.1:n.4535_4538dup
ENST00000684062.1:n.3301_3304dup
ENST00000684399.1:c.450_453dup
ENST00000684579.1:n.4481_4484dup
ENST00000341012.12:c.*457_*460dup	ENSP00000343034.7:n.*457_*460dup
ENST00000372228.9:c.*457_*460dup	ENSP00000361302.3:n.*457_*460dup
ENST00000402686.8:c.*457_*460dup MANE Select	ENSP00000385797.4:n.*457_*460dup
ENST00000676640.1:c.*457_*460dup	ENSP00000503281.1:n.*457_*460dup
ENST00000676803.1:c.*457_*460dup	ENSP00000503093.1:n.*457_*460dup
ENST00000676835.1:c.*1850_*1853dup	ENSP00000502911.1:n.*1850_*1853dup
ENST00000677444.1:c.2580_2583dup
ENST00000677626.1:c.*457_*460dup	ENSP00000503552.1:n.*457_*460dup
ENST00000677853.1:c.*1643_*1646dup	ENSP00000503488.1:n.*1643_*1646dup
ENST00000678546.1:c.*2580_*2583dup	ENSP00000503062.1:n.*2580_*2583dup
ENST00000678548.1:c.*2774_*2777dup	ENSP00000503934.1:n.*2774_*2777dup
ENST00000678626.1:n.2471_2474dup
ENST00000678833.1:c.*2387_*2390dup	ENSP00000503893.1:n.*2387_*2390dup
ENST00000679023.1:c.*281_*284dup	ENSP00000503718.1:n.*281_*284dup
ENST00000679076.1:c.2254_2257dup
ENST00000679111.1:c.*1391_*1394dup	ENSP00000504257.1:n.*1391_*1394dup
ENST00000341012.11:c.*457_*460dup	ENSP00000343034.7:n.*457_*460dup
ENST00000372220.4:c.1498_1501dup	ENSP00000361294.4:n.1498_1501dup
ENST00000372228.7:c.*457_*460dup	ENSP00000361302.3:n.*457_*460dup
ENST00000402686.7:c.*457_*460dup	ENSP00000385797.3:n.*457_*460dup
ENST00000404875.6:c.*457_*460dup	ENSP00000384531.2:n.*457_*460dup
ENST00000423007.5:c.*457_*460dup	ENSP00000404119.1:n.*457_*460dup
ENST00000485278.5:n.3185_3188dup
NM_001077365.1:c.*457_*460dup	NP_001070833.1:n.*457_*460dup
NM_001077366.1:c.*457_*460dup	NP_001070834.1:n.*457_*460dup
NM_001136113.1:c.*457_*460dup	NP_001129585.1:n.*457_*460dup
NM_001136114.1:c.*457_*460dup	NP_001129586.1:n.*457_*460dup
NM_007171.3:c.*457_*460dup	NP_009102.3:n.*457_*460dup
XM_005272156.1:c.*457_*460dup	XP_005272213.1:n.*457_*460dup
XM_005272158.1:c.*457_*460dup	XP_005272215.1:n.*457_*460dup
XM_005272159.1:c.*457_*460dup	XP_005272216.1:n.*457_*460dup
XM_005272162.1:c.*457_*460dup	XP_005272219.1:n.*457_*460dup
XM_006716932.1:c.*457_*460dup	XP_006716995.1:n.*457_*460dup
XM_011518140.1:c.*457_*460dup	XP_011516442.1:n.*457_*460dup
XM_011518141.1:c.*457_*460dup	XP_011516443.1:n.*457_*460dup
XM_011518142.1:c.*457_*460dup	XP_011516444.1:n.*457_*460dup
XM_011518143.1:c.*457_*460dup	XP_011516445.1:n.*457_*460dup
XM_011518145.1:c.*457_*460dup	XP_011516447.1:n.*457_*460dup
XM_011518147.1:c.*457_*460dup	XP_011516449.1:n.*457_*460dup
XR_929703.1:n.2701_2704dup
NM_001353193.1:c.*457_*460dup	NP_001340122.1:n.*457_*460dup
NM_001353194.1:c.*457_*460dup	NP_001340123.1:n.*457_*460dup
NM_001353195.1:c.*457_*460dup	NP_001340124.1:n.*457_*460dup
NM_001353196.1:c.*457_*460dup	NP_001340125.1:n.*457_*460dup
NM_001353197.1:c.*457_*460dup	NP_001340126.1:n.*457_*460dup
NM_001353198.1:c.*457_*460dup	NP_001340127.1:n.*457_*460dup
NM_001353199.1:c.*457_*460dup	NP_001340128.1:n.*457_*460dup
NM_001353200.1:c.*457_*460dup	NP_001340129.1:n.*457_*460dup
NR_148391.1:n.2509_2512dup
NR_148392.1:n.2727_2730dup
NR_148393.1:n.2824_2827dup
NR_148394.1:n.2578_2581dup
NR_148395.1:n.2976_2979dup
NR_148396.1:n.2610_2613dup
NR_148397.1:n.2735_2738dup
NR_148398.1:n.2690_2693dup
NR_148399.1:n.3040_3043dup
NR_148400.1:n.2815_2818dup
XM_005272162.3:c.*457_*460dup	XP_005272219.1:n.*457_*460dup
XM_006716932.2:c.*457_*460dup	XP_006716995.1:n.*457_*460dup
XM_011518140.2:c.*457_*460dup	XP_011516442.1:n.*457_*460dup
XM_011518141.2:c.*457_*460dup	XP_011516443.1:n.*457_*460dup
XM_011518142.2:c.*457_*460dup	XP_011516444.1:n.*457_*460dup
XM_011518143.2:c.*457_*460dup	XP_011516445.1:n.*457_*460dup
XM_011518145.2:c.*457_*460dup	XP_011516447.1:n.*457_*460dup
XM_017014205.2:c.*457_*460dup	XP_016869694.1:n.*457_*460dup
XM_024447380.1:c.*457_*460dup	XP_024303148.1:n.*457_*460dup
XM_024447381.1:c.*457_*460dup	XP_024303149.1:n.*457_*460dup
XM_024447382.1:c.*457_*460dup	XP_024303150.1:n.*457_*460dup
XR_001746160.2:n.2629_2632dup
XR_001746162.2:n.3010_3013dup
XR_001746164.1:n.2727_2730dup
XR_001746166.2:n.2846_2849dup
NM_001077365.2:c.*457_*460dup MANE Select	NP_001070833.1:n.*457_*460dup
NM_001077366.2:c.*457_*460dup	NP_001070834.1:n.*457_*460dup
NM_001136113.2:c.*457_*460dup	NP_001129585.1:n.*457_*460dup
NM_001136114.2:c.*457_*460dup	NP_001129586.1:n.*457_*460dup
NM_001353193.2:c.*457_*460dup	NP_001340122.2:n.*457_*460dup
NM_001353194.2:c.*457_*460dup	NP_001340123.1:n.*457_*460dup
NM_001353195.2:c.*457_*460dup	NP_001340124.1:n.*457_*460dup
NM_001353196.2:c.*457_*460dup	NP_001340125.1:n.*457_*460dup
NM_001353197.2:c.*457_*460dup	NP_001340126.2:n.*457_*460dup
NM_001353198.2:c.*457_*460dup	NP_001340127.2:n.*457_*460dup
NM_001353199.2:c.*457_*460dup	NP_001340128.2:n.*457_*460dup
NM_001353200.2:c.*457_*460dup	NP_001340129.1:n.*457_*460dup
NM_001374689.1:c.*457_*460dup	NP_001361618.1:n.*457_*460dup
NM_001374690.1:c.*457_*460dup	NP_001361619.1:n.*457_*460dup
NM_001374691.1:c.*457_*460dup	NP_001361620.1:n.*457_*460dup
NM_001374692.1:c.*457_*460dup	NP_001361621.1:n.*457_*460dup
NM_001374693.1:c.*457_*460dup	NP_001361622.1:n.*457_*460dup
NM_001374695.1:c.*457_*460dup	NP_001361624.1:n.*457_*460dup
NM_007171.4:c.*457_*460dup	NP_009102.4:n.*457_*460dup
NR_148391.2:n.2493_2496dup
NR_148392.2:n.2711_2714dup
NR_148393.2:n.2808_2811dup
NR_148394.2:n.2562_2565dup
NR_148395.2:n.2960_2963dup
NR_148396.2:n.2594_2597dup
NR_148397.2:n.2719_2722dup
NR_148398.2:n.2674_2677dup
NR_148399.2:n.3024_3027dup
NR_148400.2:n.2799_2802dup