Canonical Allele Identifier: CA1047038546

Gene: RPSA SNORA6

Linked Data

• dbSNP Id: rs2041954868
• gnomAD v3: 3-39408509-CTG-C
• gnomAD v4: 3-39408509-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39408510_39408511del , CM000665.2:g.39408510_39408511del	GRCh38
NC_000003.11:g.39450001_39450002del , CM000665.1:g.39450001_39450002del	GRCh37
NC_000003.10:g.39425005_39425006del	NCBI36
NG_033234.1:g.6798_6799del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000458478.6:c.134-96_134-95del (RPSA)	ENSP00000410848.2:n.134-96_134-95del
ENST00000478027.3:n.588_589del (RPSA)
ENST00000697728.1:c.134-96_134-95del (RPSA)	ENSP00000513422.1:n.134-96_134-95del
ENST00000697729.1:c.134-96_134-95del (RPSA)	ENSP00000513423.1:n.134-96_134-95del
ENST00000697730.1:c.134-96_134-95del (RPSA)	ENSP00000513424.1:n.134-96_134-95del
ENST00000697731.1:c.134-96_134-95del (RPSA)	ENSP00000513425.1:n.134-96_134-95del
ENST00000697732.1:n.122-96_122-95del (RPSA)
ENST00000697753.1:c.134-96_134-95del (RPSA)	ENSP00000513432.1:n.134-96_134-95del
ENST00000697816.1:c.*31-96_*31-95del (RPSA)	ENSP00000513451.1:n.*31-96_*31-95del
ENST00000301821.11:c.134-96_134-95del (RPSA) MANE Select	ENSP00000346067.4:n.134-96_134-95del
ENST00000301821.10:c.134-96_134-95del (RPSA)	ENSP00000346067.4:n.134-96_134-95del
ENST00000443003.2:c.134-96_134-95del (RPSA)	ENSP00000389351.1:n.134-96_134-95del
ENST00000444512.2:c.134-96_134-95del (RPSA)	ENSP00000396716.2:n.134-96_134-95del
ENST00000458478.5:c.134-96_134-95del (RPSA)	ENSP00000410848.1:n.134-96_134-95del
ENST00000477325.1:n.216-96_216-95del (RPSA)
ENST00000478027.2:n.307_308del (RPSA)
NM_001304288.1:c.134-96_134-95del (RPSA)	NP_001291217.1:n.134-96_134-95del
NM_002295.5:c.134-96_134-95del (RPSA)	NP_002286.2:n.134-96_134-95del
NR_002325.1:n.120_121del (SNORA6)
NM_002295.6:c.134-96_134-95del (RPSA) MANE Select	NP_002286.2:n.134-96_134-95del
NM_001304288.2:c.134-96_134-95del (RPSA)	NP_001291217.1:n.134-96_134-95del