Canonical Allele Identifier: CA10646722
Gene: SNRPN HGNC NCBI
SNHG14 HGNC NCBI

Linked Data

ClinVar Variation Id: 315433
ClinVar RCV Id: RCV000318345
dbSNP Id: rs886051014

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.24829888del , CM000677.2:g.24829888del GRCh38
NC_000015.9:g.25075035del , CM000677.1:g.25075035del GRCh37
NC_000015.8:g.22626128del NCBI36
NG_012958.1:g.11242del

Transcript Alleles

HGVS Amino-acid Change
ENST00000642807.1:c.-784del (SNRPN) ENSP00000495345.1:n.-784del
ENST00000645002.1:c.-895del (SNRPN) ENSP00000494831.1:n.-895del
ENST00000400098.6:n.187+6065del (SNRPN)
ENST00000400100.5:c.-596del (SNRPN) ENSP00000382972.1:n.-596del
NM_022806.2:c.-579+6065del (SNRPN) NP_073717.1:n.-579+6065del
NM_022807.2:c.-596del (SNRPN) NP_073718.1:n.-596del
NM_022808.2:c.-579+6038del (SNRPN) NP_073719.1:n.-579+6038del
NM_001349455.1:c.-747+6065del (SNRPN) NP_001336384.1:n.-747+6065del
NM_001349456.1:c.-654+6065del (SNRPN) NP_001336385.1:n.-654+6065del
NM_001349457.1:c.-764del (SNRPN) NP_001336386.1:n.-764del
NM_001349458.1:c.-596del (SNRPN) NP_001336387.1:n.-596del
NM_001349459.1:c.-522del (SNRPN) NP_001336388.1:n.-522del
NM_001349460.1:c.-839del (SNRPN) NP_001336389.1:n.-839del
NM_022806.4:c.-579+6065del (SNRPN) NP_073717.1:n.-579+6065del
NM_022807.4:c.-596del (SNRPN) NP_073718.1:n.-596del
NM_022808.4:c.-579+6038del (SNRPN) NP_073719.1:n.-579+6038del
NR_146177.1:n.307del (SNHG14)
NM_001349455.2:c.-747+6065del (SNRPN) NP_001336384.1:n.-747+6065del
NM_001349456.2:c.-654+6065del (SNRPN) NP_001336385.1:n.-654+6065del
NM_001349457.2:c.-764del (SNRPN) NP_001336386.1:n.-764del
NM_001349458.2:c.-596del (SNRPN) NP_001336387.1:n.-596del
NM_001349459.2:c.-522del (SNRPN) NP_001336388.1:n.-522del
NM_001349460.2:c.-839del (SNRPN) NP_001336389.1:n.-839del
NM_001378251.1:c.-829del (SNRPN) NP_001365180.1:n.-829del
NM_022806.5:c.-579+6065del (SNRPN) NP_073717.1:n.-579+6065del
NM_022807.5:c.-596del (SNRPN) NP_073718.1:n.-596del
NM_022808.5:c.-579+6038del (SNRPN) NP_073719.1:n.-579+6038del
NM_001400634.1:c.-522+6065del (SNRPN) NP_001387563.1:n.-522+6065del
NM_001400635.1:c.-770del (SNRPN) NP_001387564.1:n.-770del
NM_001400636.1:c.-748del (SNRPN) NP_001387565.1:n.-748del
NM_001400637.1:c.-765del (SNRPN) NP_001387566.1:n.-765del
NM_001400638.1:c.-743+6065del (SNRPN) NP_001387567.1:n.-743+6065del
NM_001400639.1:c.-695+6065del (SNRPN) NP_001387568.1:n.-695+6065del
NM_001400640.1:c.-1054del (SNRPN) NP_001387569.1:n.-1054del
NM_001400641.1:c.-880del (SNRPN) NP_001387570.1:n.-880del
NM_001400643.1:c.-863+6065del (SNRPN) NP_001387572.1:n.-863+6065del
NM_001400644.1:c.-785+6065del (SNRPN) NP_001387573.1:n.-785+6065del
NM_001400646.1:c.-826+6065del (SNRPN) NP_001387575.1:n.-826+6065del
NM_001400647.1:c.-712del (SNRPN) NP_001387576.1:n.-712del
NM_001400649.1:c.-727del (SNRPN) NP_001387578.1:n.-727del
NM_001400650.1:c.-391+6065del (SNRPN) NP_001387579.1:n.-391+6065del
NM_001400652.1:c.-883del (SNRPN) NP_001387581.1:n.-883del
NM_001400683.1:c.-770+6065del (SNRPN) NP_001387612.1:n.-770+6065del
NM_001400684.1:c.-767+6065del (SNRPN) NP_001387613.1:n.-767+6065del
NM_001400685.1:c.-701+6065del (SNRPN) NP_001387614.1:n.-701+6065del
NM_001400686.1:c.-898+6065del (SNRPN) NP_001387615.1:n.-898+6065del
NM_001400687.1:c.-747-362del (SNRPN) NP_001387616.1:n.-747-362del
NM_001400688.1:c.-579+16del (SNRPN) NP_001387617.1:n.-579+16del
NM_001400689.1:c.-671del (SNRPN) NP_001387618.1:n.-671del
NM_001400690.1:c.-952del (SNRPN) NP_001387619.1:n.-952del
NM_001400691.1:c.-505+6065del (SNRPN) NP_001387620.1:n.-505+6065del
NM_001400692.1:c.-710del (SNRPN) NP_001387621.1:n.-710del
NM_001400693.1:c.-878+6065del (SNRPN) NP_001387622.1:n.-878+6065del
NM_001400694.1:c.-710+6065del (SNRPN) NP_001387623.1:n.-710+6065del
NM_001400695.1:c.-753+6065del (SNRPN) NP_001387624.1:n.-753+6065del
NM_001400696.1:c.-703+6065del (SNRPN) NP_001387625.1:n.-703+6065del
NM_001400697.1:c.-392+6065del (SNRPN) NP_001387626.1:n.-392+6065del
NM_001400698.1:c.-544+6065del (SNRPN) NP_001387627.1:n.-544+6065del
NM_001400735.1:c.-408del (SNRPN) NP_001387664.1:n.-408del
NM_001400736.1:c.-465+6065del (SNRPN) NP_001387665.1:n.-465+6065del
NM_001400737.1:c.-428+6065del (SNRPN) NP_001387666.1:n.-428+6065del
NM_001400738.1:c.-1406+6065del (SNRPN) NP_001387667.1:n.-1406+6065del
NM_001400739.1:c.-1010+6065del (SNRPN) NP_001387668.1:n.-1010+6065del
NM_001400740.1:c.-1054+6065del (SNRPN) NP_001387669.1:n.-1054+6065del
NM_001400741.1:c.-768+6065del (SNRPN) NP_001387670.1:n.-768+6065del
NM_001400742.1:c.-822+6065del (SNRPN) NP_001387671.1:n.-822+6065del
NM_001400743.1:c.-710+16del (SNRPN) NP_001387672.1:n.-710+16del
NM_001400744.1:c.-527+6065del (SNRPN) NP_001387673.1:n.-527+6065del