Canonical Allele Identifier: CA1881761041

Gene: POMT1

Linked Data

• dbSNP Id: rs1950330061
• gnomAD v4: 9-131523313-T-TAAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523315_131523318dup , CM000671.2:g.131523315_131523318dup	GRCh38
NC_000009.11:g.134398702_134398705dup , CM000671.1:g.134398702_134398705dup	GRCh37
NC_000009.10:g.133388523_133388526dup	NCBI36
NG_008896.1:g.25414_25417dup
NG_008896.2:g.25414_25417dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.*209_*212dup	ENSP00000343034.7:n.*209_*212dup
ENST00000404875.7:n.2927_2930dup
ENST00000677295.2:c.*2731_*2734dup	ENSP00000504346.2:n.*2731_*2734dup
ENST00000678264.2:c.*2570_*2573dup	ENSP00000503157.2:n.*2570_*2573dup
ENST00000682070.1:n.2697_2700dup
ENST00000682639.1:c.239+145_240-145dup
ENST00000682813.1:n.2784_2787dup
ENST00000683231.1:c.240-3_240dup
ENST00000683392.1:n.4979_4982dup
ENST00000683900.1:n.4287_4290dup
ENST00000684062.1:n.3053_3056dup
ENST00000684399.1:c.240-38_240-35dup
ENST00000684579.1:n.4233_4236dup
ENST00000341012.12:c.*209_*212dup	ENSP00000343034.7:n.*209_*212dup
ENST00000372220.5:c.*209_*212dup	ENSP00000361294.5:n.*209_*212dup
ENST00000372228.9:c.*209_*212dup	ENSP00000361302.3:n.*209_*212dup
ENST00000402686.8:c.*209_*212dup MANE Select	ENSP00000385797.4:n.*209_*212dup
ENST00000676640.1:c.*209_*212dup	ENSP00000503281.1:n.*209_*212dup
ENST00000676803.1:c.*209_*212dup	ENSP00000503093.1:n.*209_*212dup
ENST00000676835.1:c.*1602_*1605dup	ENSP00000502911.1:n.*1602_*1605dup
ENST00000677029.1:c.*209_*212dup	ENSP00000502936.1:n.*209_*212dup
ENST00000677099.1:c.*2097_*2100dup	ENSP00000504553.1:n.*2097_*2100dup
ENST00000677216.1:c.*209_*212dup	ENSP00000503772.1:n.*209_*212dup
ENST00000677295.1:c.*1609_*1612dup	ENSP00000504346.1:n.*1609_*1612dup
ENST00000677444.1:c.2332_2335dup
ENST00000677626.1:c.*209_*212dup	ENSP00000503552.1:n.*209_*212dup
ENST00000677853.1:c.*1395_*1398dup	ENSP00000503488.1:n.*1395_*1398dup
ENST00000678303.1:c.*209_*212dup	ENSP00000503696.1:n.*209_*212dup
ENST00000678366.1:c.*2636_*2639dup	ENSP00000504353.1:n.*2636_*2639dup
ENST00000678546.1:c.*2332_*2335dup	ENSP00000503062.1:n.*2332_*2335dup
ENST00000678548.1:c.*2526_*2529dup	ENSP00000503934.1:n.*2526_*2529dup
ENST00000678626.1:n.2223_2226dup
ENST00000678739.1:c.*2553_*2556dup	ENSP00000503806.1:n.*2553_*2556dup
ENST00000678833.1:c.*2139_*2142dup	ENSP00000503893.1:n.*2139_*2142dup
ENST00000679023.1:c.*65-32_*65-29dup	ENSP00000503718.1:n.*65-32_*65-29dup
ENST00000679076.1:c.2006_2009dup
ENST00000679111.1:c.*1143_*1146dup	ENSP00000504257.1:n.*1143_*1146dup
ENST00000341012.11:c.*209_*212dup	ENSP00000343034.7:n.*209_*212dup
ENST00000372220.4:c.1250_1253dup	ENSP00000361294.4:n.1250_1253dup
ENST00000372228.7:c.*209_*212dup	ENSP00000361302.3:n.*209_*212dup
ENST00000402686.7:c.*209_*212dup	ENSP00000385797.3:n.*209_*212dup
ENST00000404875.6:c.*209_*212dup	ENSP00000384531.2:n.*209_*212dup
ENST00000423007.5:c.*209_*212dup	ENSP00000404119.1:n.*209_*212dup
ENST00000485278.5:n.2937_2940dup
NM_001077365.1:c.*209_*212dup	NP_001070833.1:n.*209_*212dup
NM_001077366.1:c.*209_*212dup	NP_001070834.1:n.*209_*212dup
NM_001136113.1:c.*209_*212dup	NP_001129585.1:n.*209_*212dup
NM_001136114.1:c.*209_*212dup	NP_001129586.1:n.*209_*212dup
NM_007171.3:c.*209_*212dup	NP_009102.3:n.*209_*212dup
XM_005272156.1:c.*209_*212dup	XP_005272213.1:n.*209_*212dup
XM_005272158.1:c.*209_*212dup	XP_005272215.1:n.*209_*212dup
XM_005272159.1:c.*209_*212dup	XP_005272216.1:n.*209_*212dup
XM_005272162.1:c.*209_*212dup	XP_005272219.1:n.*209_*212dup
XM_006716932.1:c.*209_*212dup	XP_006716995.1:n.*209_*212dup
XM_011518140.1:c.*209_*212dup	XP_011516442.1:n.*209_*212dup
XM_011518141.1:c.*209_*212dup	XP_011516443.1:n.*209_*212dup
XM_011518142.1:c.*209_*212dup	XP_011516444.1:n.*209_*212dup
XM_011518143.1:c.*209_*212dup	XP_011516445.1:n.*209_*212dup
XM_011518145.1:c.*209_*212dup	XP_011516447.1:n.*209_*212dup
XM_011518147.1:c.*209_*212dup	XP_011516449.1:n.*209_*212dup
XR_929703.1:n.2485-32_2485-29dup
NM_001353193.1:c.*209_*212dup	NP_001340122.1:n.*209_*212dup
NM_001353194.1:c.*209_*212dup	NP_001340123.1:n.*209_*212dup
NM_001353195.1:c.*209_*212dup	NP_001340124.1:n.*209_*212dup
NM_001353196.1:c.*209_*212dup	NP_001340125.1:n.*209_*212dup
NM_001353197.1:c.*209_*212dup	NP_001340126.1:n.*209_*212dup
NM_001353198.1:c.*209_*212dup	NP_001340127.1:n.*209_*212dup
NM_001353199.1:c.*209_*212dup	NP_001340128.1:n.*209_*212dup
NM_001353200.1:c.*209_*212dup	NP_001340129.1:n.*209_*212dup
NR_148391.1:n.2293-32_2293-29dup
NR_148392.1:n.2511-32_2511-29dup
NR_148393.1:n.2576_2579dup
NR_148394.1:n.2330_2333dup
NR_148395.1:n.2728_2731dup
NR_148396.1:n.2362_2365dup
NR_148397.1:n.2487_2490dup
NR_148398.1:n.2442_2445dup
NR_148399.1:n.2824-32_2824-29dup
NR_148400.1:n.2567_2570dup
XM_005272162.3:c.*209_*212dup	XP_005272219.1:n.*209_*212dup
XM_006716932.2:c.*209_*212dup	XP_006716995.1:n.*209_*212dup
XM_011518140.2:c.*209_*212dup	XP_011516442.1:n.*209_*212dup
XM_011518141.2:c.*209_*212dup	XP_011516443.1:n.*209_*212dup
XM_011518142.2:c.*209_*212dup	XP_011516444.1:n.*209_*212dup
XM_011518143.2:c.*209_*212dup	XP_011516445.1:n.*209_*212dup
XM_011518145.2:c.*209_*212dup	XP_011516447.1:n.*209_*212dup
XM_017014205.2:c.*209_*212dup	XP_016869694.1:n.*209_*212dup
XM_024447380.1:c.*209_*212dup	XP_024303148.1:n.*209_*212dup
XM_024447381.1:c.*209_*212dup	XP_024303149.1:n.*209_*212dup
XM_024447382.1:c.*209_*212dup	XP_024303150.1:n.*209_*212dup
XR_001746160.2:n.2413-32_2413-29dup
XR_001746162.2:n.2762_2765dup
XR_001746164.1:n.2479_2482dup
XR_001746166.2:n.2630-32_2630-29dup
NM_001077365.2:c.*209_*212dup MANE Select	NP_001070833.1:n.*209_*212dup
NM_001077366.2:c.*209_*212dup	NP_001070834.1:n.*209_*212dup
NM_001136113.2:c.*209_*212dup	NP_001129585.1:n.*209_*212dup
NM_001136114.2:c.*209_*212dup	NP_001129586.1:n.*209_*212dup
NM_001353193.2:c.*209_*212dup	NP_001340122.2:n.*209_*212dup
NM_001353194.2:c.*209_*212dup	NP_001340123.1:n.*209_*212dup
NM_001353195.2:c.*209_*212dup	NP_001340124.1:n.*209_*212dup
NM_001353196.2:c.*209_*212dup	NP_001340125.1:n.*209_*212dup
NM_001353197.2:c.*209_*212dup	NP_001340126.2:n.*209_*212dup
NM_001353198.2:c.*209_*212dup	NP_001340127.2:n.*209_*212dup
NM_001353199.2:c.*209_*212dup	NP_001340128.2:n.*209_*212dup
NM_001353200.2:c.*209_*212dup	NP_001340129.1:n.*209_*212dup
NM_001374689.1:c.*209_*212dup	NP_001361618.1:n.*209_*212dup
NM_001374690.1:c.*209_*212dup	NP_001361619.1:n.*209_*212dup
NM_001374691.1:c.*209_*212dup	NP_001361620.1:n.*209_*212dup
NM_001374692.1:c.*209_*212dup	NP_001361621.1:n.*209_*212dup
NM_001374693.1:c.*209_*212dup	NP_001361622.1:n.*209_*212dup
NM_001374695.1:c.*209_*212dup	NP_001361624.1:n.*209_*212dup
NM_007171.4:c.*209_*212dup	NP_009102.4:n.*209_*212dup
NR_148391.2:n.2277-32_2277-29dup
NR_148392.2:n.2495-32_2495-29dup
NR_148393.2:n.2560_2563dup
NR_148394.2:n.2314_2317dup
NR_148395.2:n.2712_2715dup
NR_148396.2:n.2346_2349dup
NR_148397.2:n.2471_2474dup
NR_148398.2:n.2426_2429dup
NR_148399.2:n.2808-32_2808-29dup
NR_148400.2:n.2551_2554dup