Canonical Allele Identifier: CA967811329
Gene: SNRPN HGNC NCBI
SNHG14 HGNC NCBI

Linked Data

dbSNP Id: rs2056929035
gnomAD v3: 15-24883563-TAAC-T
gnomAD v4: 15-24883563-TAAC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.24883565_24883567del , CM000677.2:g.24883565_24883567del GRCh38
NC_000015.9:g.25128712_25128714del , CM000677.1:g.25128712_25128714del GRCh37
NC_000015.8:g.22679805_22679807del NCBI36
NG_012958.1:g.64919_64921del

Transcript Alleles

HGVS Amino-acid Change
ENST00000642807.1:c.-766-2951_-766-2949del (SNRPN) ENSP00000495345.1:n.-766-2951_-766-2949del
ENST00000645002.1:c.-877-2951_-877-2949del (SNRPN) ENSP00000494831.1:n.-877-2951_-877-2949del
ENST00000400097.5:c.-578-2951_-578-2949del (SNRPN) ENSP00000382969.1:n.-578-2951_-578-2949del
ENST00000400098.6:n.188-2951_188-2949del (SNRPN)
ENST00000400100.5:c.-578-2951_-578-2949del (SNRPN) ENSP00000382972.1:n.-578-2951_-578-2949del
ENST00000553597.5:n.117-2951_117-2949del (SNRPN)
NM_022805.2:c.-578-2951_-578-2949del (SNRPN) NP_073716.1:n.-578-2951_-578-2949del
NM_022806.2:c.-578-2951_-578-2949del (SNRPN) NP_073717.1:n.-578-2951_-578-2949del
NM_022807.2:c.-578-2951_-578-2949del (SNRPN) NP_073718.1:n.-578-2951_-578-2949del
NM_022808.2:c.-578-2951_-578-2949del (SNRPN) NP_073719.1:n.-578-2951_-578-2949del
NM_001349454.1:c.-801-2951_-801-2949del (SNRPN) NP_001336383.1:n.-801-2951_-801-2949del
NM_001349455.1:c.-746-2951_-746-2949del (SNRPN) NP_001336384.1:n.-746-2951_-746-2949del
NM_001349456.1:c.-653-2951_-653-2949del (SNRPN) NP_001336385.1:n.-653-2951_-653-2949del
NM_001349457.1:c.-746-2951_-746-2949del (SNRPN) NP_001336386.1:n.-746-2951_-746-2949del
NM_001349458.1:c.-578-2951_-578-2949del (SNRPN) NP_001336387.1:n.-578-2951_-578-2949del
NM_001349459.1:c.-504-36446_-504-36444del (SNRPN) NP_001336388.1:n.-504-36446_-504-36444del
NM_001349460.1:c.-821-2951_-821-2949del (SNRPN) NP_001336389.1:n.-821-2951_-821-2949del
NM_001349461.1:c.-653-2951_-653-2949del (SNRPN) NP_001336390.1:n.-653-2951_-653-2949del
NM_001349462.1:c.-746-2951_-746-2949del (SNRPN) NP_001336391.1:n.-746-2951_-746-2949del
NM_022805.4:c.-578-2951_-578-2949del (SNRPN) NP_073716.1:n.-578-2951_-578-2949del
NM_022806.4:c.-578-2951_-578-2949del (SNRPN) NP_073717.1:n.-578-2951_-578-2949del
NM_022807.4:c.-578-2951_-578-2949del (SNRPN) NP_073718.1:n.-578-2951_-578-2949del
NM_022808.4:c.-578-2951_-578-2949del (SNRPN) NP_073719.1:n.-578-2951_-578-2949del
NR_146177.1:n.325-2951_325-2949del (SNHG14)
NM_001349454.2:c.-801-2951_-801-2949del (SNRPN) NP_001336383.1:n.-801-2951_-801-2949del
NM_001349455.2:c.-746-2951_-746-2949del (SNRPN) NP_001336384.1:n.-746-2951_-746-2949del
NM_001349456.2:c.-653-2951_-653-2949del (SNRPN) NP_001336385.1:n.-653-2951_-653-2949del
NM_001349457.2:c.-746-2951_-746-2949del (SNRPN) NP_001336386.1:n.-746-2951_-746-2949del
NM_001349458.2:c.-578-2951_-578-2949del (SNRPN) NP_001336387.1:n.-578-2951_-578-2949del
NM_001349459.2:c.-504-36446_-504-36444del (SNRPN) NP_001336388.1:n.-504-36446_-504-36444del
NM_001349460.2:c.-821-2951_-821-2949del (SNRPN) NP_001336389.1:n.-821-2951_-821-2949del
NM_001349461.2:c.-653-2951_-653-2949del (SNRPN) NP_001336390.1:n.-653-2951_-653-2949del
NM_001349462.2:c.-746-2951_-746-2949del (SNRPN) NP_001336391.1:n.-746-2951_-746-2949del
NM_001378251.1:c.-811-2951_-811-2949del (SNRPN) NP_001365180.1:n.-811-2951_-811-2949del
NM_022805.5:c.-578-2951_-578-2949del (SNRPN) NP_073716.1:n.-578-2951_-578-2949del
NM_022806.5:c.-578-2951_-578-2949del (SNRPN) NP_073717.1:n.-578-2951_-578-2949del
NM_022807.5:c.-578-2951_-578-2949del (SNRPN) NP_073718.1:n.-578-2951_-578-2949del
NM_022808.5:c.-578-2951_-578-2949del (SNRPN) NP_073719.1:n.-578-2951_-578-2949del
NM_001400634.1:c.-521-28798_-521-28796del (SNRPN) NP_001387563.1:n.-521-28798_-521-28796del
NM_001400635.1:c.-752-2951_-752-2949del (SNRPN) NP_001387564.1:n.-752-2951_-752-2949del
NM_001400636.1:c.-561-2951_-561-2949del (SNRPN) NP_001387565.1:n.-561-2951_-561-2949del
NM_001400637.1:c.-578-2951_-578-2949del (SNRPN) NP_001387566.1:n.-578-2951_-578-2949del
NM_001400638.1:c.-742-2951_-742-2949del (SNRPN) NP_001387567.1:n.-742-2951_-742-2949del
NM_001400639.1:c.-694-2951_-694-2949del (SNRPN) NP_001387568.1:n.-694-2951_-694-2949del
NM_001400640.1:c.-1036-2951_-1036-2949del (SNRPN) NP_001387569.1:n.-1036-2951_-1036-2949del
NM_001400641.1:c.-862-2951_-862-2949del (SNRPN) NP_001387570.1:n.-862-2951_-862-2949del
NM_001400643.1:c.-862-2951_-862-2949del (SNRPN) NP_001387572.1:n.-862-2951_-862-2949del
NM_001400644.1:c.-784-2951_-784-2949del (SNRPN) NP_001387573.1:n.-784-2951_-784-2949del
NM_001400646.1:c.-825-2951_-825-2949del (SNRPN) NP_001387575.1:n.-825-2951_-825-2949del
NM_001400647.1:c.-694-2951_-694-2949del (SNRPN) NP_001387576.1:n.-694-2951_-694-2949del
NM_001400649.1:c.-709-2951_-709-2949del (SNRPN) NP_001387578.1:n.-709-2951_-709-2949del
NM_001400650.1:c.-391+59742_-391+59744del (SNRPN) NP_001387579.1:n.-391+59742_-391+59744del
NM_001400652.1:c.-865-2951_-865-2949del (SNRPN) NP_001387581.1:n.-865-2951_-865-2949del
NM_001400683.1:c.-769-2951_-769-2949del (SNRPN) NP_001387612.1:n.-769-2951_-769-2949del
NM_001400684.1:c.-766-2951_-766-2949del (SNRPN) NP_001387613.1:n.-766-2951_-766-2949del
NM_001400685.1:c.-700-2951_-700-2949del (SNRPN) NP_001387614.1:n.-700-2951_-700-2949del
NM_001400686.1:c.-897-2951_-897-2949del (SNRPN) NP_001387615.1:n.-897-2951_-897-2949del
NM_001400687.1:c.-578-2951_-578-2949del (SNRPN) NP_001387616.1:n.-578-2951_-578-2949del
NM_001400688.1:c.-578-2951_-578-2949del (SNRPN) NP_001387617.1:n.-578-2951_-578-2949del
NM_001400689.1:c.-653-2951_-653-2949del (SNRPN) NP_001387618.1:n.-653-2951_-653-2949del
NM_001400690.1:c.-934-2951_-934-2949del (SNRPN) NP_001387619.1:n.-934-2951_-934-2949del
NM_001400691.1:c.-504-36446_-504-36444del (SNRPN) NP_001387620.1:n.-504-36446_-504-36444del
NM_001400692.1:c.-692-36446_-692-36444del (SNRPN) NP_001387621.1:n.-692-36446_-692-36444del
NM_001400693.1:c.-877-2951_-877-2949del (SNRPN) NP_001387622.1:n.-877-2951_-877-2949del
NM_001400694.1:c.-709-2951_-709-2949del (SNRPN) NP_001387623.1:n.-709-2951_-709-2949del
NM_001400695.1:c.-752-2951_-752-2949del (SNRPN) NP_001387624.1:n.-752-2951_-752-2949del
NM_001400696.1:c.-702-2951_-702-2949del (SNRPN) NP_001387625.1:n.-702-2951_-702-2949del
NM_001400697.1:c.-391-2951_-391-2949del (SNRPN) NP_001387626.1:n.-391-2951_-391-2949del
NM_001400698.1:c.-543-2951_-543-2949del (SNRPN) NP_001387627.1:n.-543-2951_-543-2949del
NM_001400701.1:c.-993-2951_-993-2949del (SNRPN) NP_001387630.1:n.-993-2951_-993-2949del
NM_001400702.1:c.-769-2951_-769-2949del (SNRPN) NP_001387631.1:n.-769-2951_-769-2949del
NM_001400703.1:c.-957-2951_-957-2949del (SNRPN) NP_001387632.1:n.-957-2951_-957-2949del
NM_001400704.1:c.-934-2951_-934-2949del (SNRPN) NP_001387633.1:n.-934-2951_-934-2949del
NM_001400706.1:c.-709-2951_-709-2949del (SNRPN) NP_001387635.1:n.-709-2951_-709-2949del
NM_001400708.1:c.-862-2951_-862-2949del (SNRPN) NP_001387637.1:n.-862-2951_-862-2949del
NM_001400710.1:c.-882-2951_-882-2949del (SNRPN) NP_001387639.1:n.-882-2951_-882-2949del
NM_001400712.1:c.-1325-2951_-1325-2949del (SNRPN) NP_001387641.1:n.-1325-2951_-1325-2949del
NM_001400713.1:c.-766-2951_-766-2949del (SNRPN) NP_001387642.1:n.-766-2951_-766-2949del
NM_001400715.1:c.-694-2951_-694-2949del (SNRPN) NP_001387644.1:n.-694-2951_-694-2949del
NM_001400716.1:c.-621+26849_-621+26851del (SNRPN) NP_001387645.1:n.-621+26849_-621+26851del
NM_001400717.1:c.-580-2951_-580-2949del (SNRPN) NP_001387646.1:n.-580-2951_-580-2949del
NM_001400718.1:c.-636+26849_-636+26851del (SNRPN) NP_001387647.1:n.-636+26849_-636+26851del
NM_001400719.1:c.-505+26849_-505+26851del (SNRPN) NP_001387648.1:n.-505+26849_-505+26851del
NM_001400720.1:c.-458-2951_-458-2949del (SNRPN) NP_001387649.1:n.-458-2951_-458-2949del
NM_001400721.1:c.-464-2951_-464-2949del (SNRPN) NP_001387650.1:n.-464-2951_-464-2949del
NM_001400722.1:c.-897-2951_-897-2949del (SNRPN) NP_001387651.1:n.-897-2951_-897-2949del
NM_001400723.1:c.-578-2951_-578-2949del (SNRPN) NP_001387652.1:n.-578-2951_-578-2949del
NM_001400724.1:c.-752-2951_-752-2949del (SNRPN) NP_001387653.1:n.-752-2951_-752-2949del
NM_001400735.1:c.-391+53660_-391+53662del (SNRPN) NP_001387664.1:n.-391+53660_-391+53662del
NM_001400736.1:c.-464-2951_-464-2949del (SNRPN) NP_001387665.1:n.-464-2951_-464-2949del
NM_001400737.1:c.-427-2951_-427-2949del (SNRPN) NP_001387666.1:n.-427-2951_-427-2949del
NM_001400738.1:c.-1405-2951_-1405-2949del (SNRPN) NP_001387667.1:n.-1405-2951_-1405-2949del
NM_001400739.1:c.-1009-2951_-1009-2949del (SNRPN) NP_001387668.1:n.-1009-2951_-1009-2949del
NM_001400740.1:c.-1053-2951_-1053-2949del (SNRPN) NP_001387669.1:n.-1053-2951_-1053-2949del
NM_001400741.1:c.-767-2951_-767-2949del (SNRPN) NP_001387670.1:n.-767-2951_-767-2949del
NM_001400742.1:c.-821-2951_-821-2949del (SNRPN) NP_001387671.1:n.-821-2951_-821-2949del
NM_001400743.1:c.-709-2951_-709-2949del (SNRPN) NP_001387672.1:n.-709-2951_-709-2949del
NM_001400744.1:c.-526-2951_-526-2949del (SNRPN) NP_001387673.1:n.-526-2951_-526-2949del
NM_001400745.1:c.-1289-2951_-1289-2949del (SNRPN) NP_001387674.1:n.-1289-2951_-1289-2949del
NM_001400746.1:c.-580+26849_-580+26851del (SNRPN) NP_001387675.1:n.-580+26849_-580+26851del
NM_001400747.1:c.-618-2951_-618-2949del (SNRPN) NP_001387676.1:n.-618-2951_-618-2949del
NM_001400748.1:c.-767-2951_-767-2949del (SNRPN) NP_001387677.1:n.-767-2951_-767-2949del
NM_001400753.1:c.-914-2951_-914-2949del (SNRPN) NP_001387682.1:n.-914-2951_-914-2949del
NM_001400754.1:c.-525-2951_-525-2949del (SNRPN) NP_001387683.1:n.-525-2951_-525-2949del
NM_001400755.1:c.-841-2951_-841-2949del (SNRPN) NP_001387684.1:n.-841-2951_-841-2949del
NM_001400756.1:c.-502-2951_-502-2949del (SNRPN) NP_001387685.1:n.-502-2951_-502-2949del
NM_001400757.1:c.-825-2951_-825-2949del (SNRPN) NP_001387686.1:n.-825-2951_-825-2949del
NM_001400758.1:c.-1036-2951_-1036-2949del (SNRPN) NP_001387687.1:n.-1036-2951_-1036-2949del
NM_001400759.1:c.-470-2951_-470-2949del (SNRPN) NP_001387688.1:n.-470-2951_-470-2949del
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