Linked Data
dbSNP Id:
rs2056894729
gnomAD v3:
15-24883203-CCAGCGGCTTTG-C
gnomAD v4:
15-24883203-CCAGCGGCTTTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.24883208_24883218del , CM000677.2:g.24883208_24883218del | GRCh38 |
| NC_000015.9:g.25128355_25128365del , CM000677.1:g.25128355_25128365del | GRCh37 |
| NC_000015.8:g.22679448_22679458del | NCBI36 |
| NG_012958.1:g.64562_64572del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642807.1:c.-766-3308_-766-3298del (SNRPN) | ENSP00000495345.1:n.-766-3308_-766-3298de... | |
| ENST00000645002.1:c.-877-3308_-877-3298del (SNRPN) | ENSP00000494831.1:n.-877-3308_-877-3298de... | |
| ENST00000400097.5:c.-578-3308_-578-3298del (SNRPN) | ENSP00000382969.1:n.-578-3308_-578-3298de... | |
| ENST00000400098.6:n.188-3308_188-3298del (SNRPN) | ||
| ENST00000400100.5:c.-578-3308_-578-3298del (SNRPN) | ENSP00000382972.1:n.-578-3308_-578-3298de... | |
| ENST00000553597.5:n.117-3308_117-3298del (SNRPN) | ||
| NM_022805.2:c.-578-3308_-578-3298del (SNRPN) | NP_073716.1:n.-578-3308_-578-3298del | |
| NM_022806.2:c.-578-3308_-578-3298del (SNRPN) | NP_073717.1:n.-578-3308_-578-3298del | |
| NM_022807.2:c.-578-3308_-578-3298del (SNRPN) | NP_073718.1:n.-578-3308_-578-3298del | |
| NM_022808.2:c.-578-3308_-578-3298del (SNRPN) | NP_073719.1:n.-578-3308_-578-3298del | |
| NM_001349454.1:c.-801-3308_-801-3298del (SNRPN) | NP_001336383.1:n.-801-3308_-801-3298del | |
| NM_001349455.1:c.-746-3308_-746-3298del (SNRPN) | NP_001336384.1:n.-746-3308_-746-3298del | |
| NM_001349456.1:c.-653-3308_-653-3298del (SNRPN) | NP_001336385.1:n.-653-3308_-653-3298del | |
| NM_001349457.1:c.-746-3308_-746-3298del (SNRPN) | NP_001336386.1:n.-746-3308_-746-3298del | |
| NM_001349458.1:c.-578-3308_-578-3298del (SNRPN) | NP_001336387.1:n.-578-3308_-578-3298del | |
| NM_001349459.1:c.-504-36803_-504-36793del (SNRPN) | NP_001336388.1:n.-504-36803_-504-36793del... | |
| NM_001349460.1:c.-821-3308_-821-3298del (SNRPN) | NP_001336389.1:n.-821-3308_-821-3298del | |
| NM_001349461.1:c.-653-3308_-653-3298del (SNRPN) | NP_001336390.1:n.-653-3308_-653-3298del | |
| NM_001349462.1:c.-746-3308_-746-3298del (SNRPN) | NP_001336391.1:n.-746-3308_-746-3298del | |
| NM_022805.4:c.-578-3308_-578-3298del (SNRPN) | NP_073716.1:n.-578-3308_-578-3298del | |
| NM_022806.4:c.-578-3308_-578-3298del (SNRPN) | NP_073717.1:n.-578-3308_-578-3298del | |
| NM_022807.4:c.-578-3308_-578-3298del (SNRPN) | NP_073718.1:n.-578-3308_-578-3298del | |
| NM_022808.4:c.-578-3308_-578-3298del (SNRPN) | NP_073719.1:n.-578-3308_-578-3298del | |
| NR_146177.1:n.325-3308_325-3298del (SNHG14) | ||
| NM_001349454.2:c.-801-3308_-801-3298del (SNRPN) | NP_001336383.1:n.-801-3308_-801-3298del | |
| NM_001349455.2:c.-746-3308_-746-3298del (SNRPN) | NP_001336384.1:n.-746-3308_-746-3298del | |
| NM_001349456.2:c.-653-3308_-653-3298del (SNRPN) | NP_001336385.1:n.-653-3308_-653-3298del | |
| NM_001349457.2:c.-746-3308_-746-3298del (SNRPN) | NP_001336386.1:n.-746-3308_-746-3298del | |
| NM_001349458.2:c.-578-3308_-578-3298del (SNRPN) | NP_001336387.1:n.-578-3308_-578-3298del | |
| NM_001349459.2:c.-504-36803_-504-36793del (SNRPN) | NP_001336388.1:n.-504-36803_-504-36793del... | |
| NM_001349460.2:c.-821-3308_-821-3298del (SNRPN) | NP_001336389.1:n.-821-3308_-821-3298del | |
| NM_001349461.2:c.-653-3308_-653-3298del (SNRPN) | NP_001336390.1:n.-653-3308_-653-3298del | |
| NM_001349462.2:c.-746-3308_-746-3298del (SNRPN) | NP_001336391.1:n.-746-3308_-746-3298del | |
| NM_001378251.1:c.-811-3308_-811-3298del (SNRPN) | NP_001365180.1:n.-811-3308_-811-3298del | |
| NM_022805.5:c.-578-3308_-578-3298del (SNRPN) | NP_073716.1:n.-578-3308_-578-3298del | |
| NM_022806.5:c.-578-3308_-578-3298del (SNRPN) | NP_073717.1:n.-578-3308_-578-3298del | |
| NM_022807.5:c.-578-3308_-578-3298del (SNRPN) | NP_073718.1:n.-578-3308_-578-3298del | |
| NM_022808.5:c.-578-3308_-578-3298del (SNRPN) | NP_073719.1:n.-578-3308_-578-3298del | |
| NM_001400634.1:c.-521-29155_-521-29145del (SNRPN) | NP_001387563.1:n.-521-29155_-521-29145del... | |
| NM_001400635.1:c.-752-3308_-752-3298del (SNRPN) | NP_001387564.1:n.-752-3308_-752-3298del | |
| NM_001400636.1:c.-561-3308_-561-3298del (SNRPN) | NP_001387565.1:n.-561-3308_-561-3298del | |
| NM_001400637.1:c.-578-3308_-578-3298del (SNRPN) | NP_001387566.1:n.-578-3308_-578-3298del | |
| NM_001400638.1:c.-742-3308_-742-3298del (SNRPN) | NP_001387567.1:n.-742-3308_-742-3298del | |
| NM_001400639.1:c.-694-3308_-694-3298del (SNRPN) | NP_001387568.1:n.-694-3308_-694-3298del | |
| NM_001400640.1:c.-1036-3308_-1036-3298del (SNRPN) | NP_001387569.1:n.-1036-3308_-1036-3298del... | |
| NM_001400641.1:c.-862-3308_-862-3298del (SNRPN) | NP_001387570.1:n.-862-3308_-862-3298del | |
| NM_001400643.1:c.-862-3308_-862-3298del (SNRPN) | NP_001387572.1:n.-862-3308_-862-3298del | |
| NM_001400644.1:c.-784-3308_-784-3298del (SNRPN) | NP_001387573.1:n.-784-3308_-784-3298del | |
| NM_001400646.1:c.-825-3308_-825-3298del (SNRPN) | NP_001387575.1:n.-825-3308_-825-3298del | |
| NM_001400647.1:c.-694-3308_-694-3298del (SNRPN) | NP_001387576.1:n.-694-3308_-694-3298del | |
| NM_001400649.1:c.-709-3308_-709-3298del (SNRPN) | NP_001387578.1:n.-709-3308_-709-3298del | |
| NM_001400650.1:c.-391+59385_-391+59395del (SNRPN) | NP_001387579.1:n.-391+59385_-391+59395del... | |
| NM_001400652.1:c.-865-3308_-865-3298del (SNRPN) | NP_001387581.1:n.-865-3308_-865-3298del | |
| NM_001400683.1:c.-769-3308_-769-3298del (SNRPN) | NP_001387612.1:n.-769-3308_-769-3298del | |
| NM_001400684.1:c.-766-3308_-766-3298del (SNRPN) | NP_001387613.1:n.-766-3308_-766-3298del | |
| NM_001400685.1:c.-700-3308_-700-3298del (SNRPN) | NP_001387614.1:n.-700-3308_-700-3298del | |
| NM_001400686.1:c.-897-3308_-897-3298del (SNRPN) | NP_001387615.1:n.-897-3308_-897-3298del | |
| NM_001400687.1:c.-578-3308_-578-3298del (SNRPN) | NP_001387616.1:n.-578-3308_-578-3298del | |
| NM_001400688.1:c.-578-3308_-578-3298del (SNRPN) | NP_001387617.1:n.-578-3308_-578-3298del | |
| NM_001400689.1:c.-653-3308_-653-3298del (SNRPN) | NP_001387618.1:n.-653-3308_-653-3298del | |
| NM_001400690.1:c.-934-3308_-934-3298del (SNRPN) | NP_001387619.1:n.-934-3308_-934-3298del | |
| NM_001400691.1:c.-504-36803_-504-36793del (SNRPN) | NP_001387620.1:n.-504-36803_-504-36793del... | |
| NM_001400692.1:c.-692-36803_-692-36793del (SNRPN) | NP_001387621.1:n.-692-36803_-692-36793del... | |
| NM_001400693.1:c.-877-3308_-877-3298del (SNRPN) | NP_001387622.1:n.-877-3308_-877-3298del | |
| NM_001400694.1:c.-709-3308_-709-3298del (SNRPN) | NP_001387623.1:n.-709-3308_-709-3298del | |
| NM_001400695.1:c.-752-3308_-752-3298del (SNRPN) | NP_001387624.1:n.-752-3308_-752-3298del | |
| NM_001400696.1:c.-702-3308_-702-3298del (SNRPN) | NP_001387625.1:n.-702-3308_-702-3298del | |
| NM_001400697.1:c.-391-3308_-391-3298del (SNRPN) | NP_001387626.1:n.-391-3308_-391-3298del | |
| NM_001400698.1:c.-543-3308_-543-3298del (SNRPN) | NP_001387627.1:n.-543-3308_-543-3298del | |
| NM_001400701.1:c.-993-3308_-993-3298del (SNRPN) | NP_001387630.1:n.-993-3308_-993-3298del | |
| NM_001400702.1:c.-769-3308_-769-3298del (SNRPN) | NP_001387631.1:n.-769-3308_-769-3298del | |
| NM_001400703.1:c.-957-3308_-957-3298del (SNRPN) | NP_001387632.1:n.-957-3308_-957-3298del | |
| NM_001400704.1:c.-934-3308_-934-3298del (SNRPN) | NP_001387633.1:n.-934-3308_-934-3298del | |
| NM_001400706.1:c.-709-3308_-709-3298del (SNRPN) | NP_001387635.1:n.-709-3308_-709-3298del | |
| NM_001400708.1:c.-862-3308_-862-3298del (SNRPN) | NP_001387637.1:n.-862-3308_-862-3298del | |
| NM_001400710.1:c.-882-3308_-882-3298del (SNRPN) | NP_001387639.1:n.-882-3308_-882-3298del | |
| NM_001400712.1:c.-1325-3308_-1325-3298del (SNRPN) | NP_001387641.1:n.-1325-3308_-1325-3298del... | |
| NM_001400713.1:c.-766-3308_-766-3298del (SNRPN) | NP_001387642.1:n.-766-3308_-766-3298del | |
| NM_001400715.1:c.-694-3308_-694-3298del (SNRPN) | NP_001387644.1:n.-694-3308_-694-3298del | |
| NM_001400716.1:c.-621+26492_-621+26502del (SNRPN) | NP_001387645.1:n.-621+26492_-621+26502del... | |
| NM_001400717.1:c.-580-3308_-580-3298del (SNRPN) | NP_001387646.1:n.-580-3308_-580-3298del | |
| NM_001400718.1:c.-636+26492_-636+26502del (SNRPN) | NP_001387647.1:n.-636+26492_-636+26502del... | |
| NM_001400719.1:c.-505+26492_-505+26502del (SNRPN) | NP_001387648.1:n.-505+26492_-505+26502del... | |
| NM_001400720.1:c.-458-3308_-458-3298del (SNRPN) | NP_001387649.1:n.-458-3308_-458-3298del | |
| NM_001400721.1:c.-464-3308_-464-3298del (SNRPN) | NP_001387650.1:n.-464-3308_-464-3298del | |
| NM_001400722.1:c.-897-3308_-897-3298del (SNRPN) | NP_001387651.1:n.-897-3308_-897-3298del | |
| NM_001400723.1:c.-578-3308_-578-3298del (SNRPN) | NP_001387652.1:n.-578-3308_-578-3298del | |
| NM_001400724.1:c.-752-3308_-752-3298del (SNRPN) | NP_001387653.1:n.-752-3308_-752-3298del | |
| NM_001400735.1:c.-391+53303_-391+53313del (SNRPN) | NP_001387664.1:n.-391+53303_-391+53313del... | |
| NM_001400736.1:c.-464-3308_-464-3298del (SNRPN) | NP_001387665.1:n.-464-3308_-464-3298del | |
| NM_001400737.1:c.-427-3308_-427-3298del (SNRPN) | NP_001387666.1:n.-427-3308_-427-3298del | |
| NM_001400738.1:c.-1405-3308_-1405-3298del (SNRPN) | NP_001387667.1:n.-1405-3308_-1405-3298del... | |
| NM_001400739.1:c.-1009-3308_-1009-3298del (SNRPN) | NP_001387668.1:n.-1009-3308_-1009-3298del... | |
| NM_001400740.1:c.-1053-3308_-1053-3298del (SNRPN) | NP_001387669.1:n.-1053-3308_-1053-3298del... | |
| NM_001400741.1:c.-767-3308_-767-3298del (SNRPN) | NP_001387670.1:n.-767-3308_-767-3298del | |
| NM_001400742.1:c.-821-3308_-821-3298del (SNRPN) | NP_001387671.1:n.-821-3308_-821-3298del | |
| NM_001400743.1:c.-709-3308_-709-3298del (SNRPN) | NP_001387672.1:n.-709-3308_-709-3298del | |
| NM_001400744.1:c.-526-3308_-526-3298del (SNRPN) | NP_001387673.1:n.-526-3308_-526-3298del | |
| NM_001400745.1:c.-1289-3308_-1289-3298del (SNRPN) | NP_001387674.1:n.-1289-3308_-1289-3298del... | |
| NM_001400746.1:c.-580+26492_-580+26502del (SNRPN) | NP_001387675.1:n.-580+26492_-580+26502del... | |
| NM_001400747.1:c.-618-3308_-618-3298del (SNRPN) | NP_001387676.1:n.-618-3308_-618-3298del | |
| NM_001400748.1:c.-767-3308_-767-3298del (SNRPN) | NP_001387677.1:n.-767-3308_-767-3298del | |
| NM_001400753.1:c.-914-3308_-914-3298del (SNRPN) | NP_001387682.1:n.-914-3308_-914-3298del | |
| NM_001400754.1:c.-525-3308_-525-3298del (SNRPN) | NP_001387683.1:n.-525-3308_-525-3298del | |
| NM_001400755.1:c.-841-3308_-841-3298del (SNRPN) | NP_001387684.1:n.-841-3308_-841-3298del | |
| NM_001400756.1:c.-502-3308_-502-3298del (SNRPN) | NP_001387685.1:n.-502-3308_-502-3298del | |
| NM_001400757.1:c.-825-3308_-825-3298del (SNRPN) | NP_001387686.1:n.-825-3308_-825-3298del | |
| NM_001400758.1:c.-1036-3308_-1036-3298del (SNRPN) | NP_001387687.1:n.-1036-3308_-1036-3298del... | |
| NM_001400759.1:c.-470-3308_-470-3298del (SNRPN) | NP_001387688.1:n.-470-3308_-470-3298del |