Canonical Allele Identifier: CA2327682

Gene: RPSA SNORA6

Linked Data

• dbSNP Id: rs758487900
• ExAC: 3:39449954 TCAATGG / T
• gnomAD v2: 3-39449954-TCAATGG-T
• gnomAD v4: 3-39408463-TCAATGG-T
• MyVariant Identifiers: chr3:g.39449955_39449960del (hg19) ; chr3:g.39408464_39408469del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39408466_39408471del , CM000665.2:g.39408466_39408471del	GRCh38
NC_000003.11:g.39449957_39449962del , CM000665.1:g.39449957_39449962del	GRCh37
NC_000003.10:g.39424961_39424966del	NCBI36
NG_033234.1:g.6754_6759del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000458478.6:c.134-140_134-135del (RPSA)	ENSP00000410848.2:n.134-140_134-135del
ENST00000478027.3:n.544_549del (RPSA)
ENST00000697728.1:c.134-140_134-135del (RPSA)	ENSP00000513422.1:n.134-140_134-135del
ENST00000697729.1:c.134-140_134-135del (RPSA)	ENSP00000513423.1:n.134-140_134-135del
ENST00000697730.1:c.134-140_134-135del (RPSA)	ENSP00000513424.1:n.134-140_134-135del
ENST00000697731.1:c.134-140_134-135del (RPSA)	ENSP00000513425.1:n.134-140_134-135del
ENST00000697732.1:n.122-140_122-135del (RPSA)
ENST00000697753.1:c.134-140_134-135del (RPSA)	ENSP00000513432.1:n.134-140_134-135del
ENST00000697816.1:c.*31-140_*31-135del (RPSA)	ENSP00000513451.1:n.*31-140_*31-135del
ENST00000301821.11:c.134-140_134-135del (RPSA) MANE Select	ENSP00000346067.4:n.134-140_134-135del
ENST00000301821.10:c.134-140_134-135del (RPSA)	ENSP00000346067.4:n.134-140_134-135del
ENST00000443003.2:c.134-140_134-135del (RPSA)	ENSP00000389351.1:n.134-140_134-135del
ENST00000444512.2:c.134-140_134-135del (RPSA)	ENSP00000396716.2:n.134-140_134-135del
ENST00000458478.5:c.134-140_134-135del (RPSA)	ENSP00000410848.1:n.134-140_134-135del
ENST00000477325.1:n.216-140_216-135del (RPSA)
ENST00000478027.2:n.263_268del (RPSA)
NM_001304288.1:c.134-140_134-135del (RPSA)	NP_001291217.1:n.134-140_134-135del
NM_002295.5:c.134-140_134-135del (RPSA)	NP_002286.2:n.134-140_134-135del
NR_002325.1:n.76_81del (SNORA6)
NM_002295.6:c.134-140_134-135del (RPSA) MANE Select	NP_002286.2:n.134-140_134-135del
NM_001304288.2:c.134-140_134-135del (RPSA)	NP_001291217.1:n.134-140_134-135del