Canonical Allele Identifier: CA2629987765

Gene: RPS17

Linked Data

• gnomAD v4: 15-82540344-CCTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.82540347_82540350del , CM000677.2:g.82540347_82540350del	GRCh38
NC_000015.9:g.82824755_82824758del , CM000677.1:g.82824755_82824758del	GRCh37
NC_000015.8:g.80611810_80611813del	NCBI36
NG_009890.1:g.4890_4893del
NG_009890.2:g.5197_5200del

Transcript Alleles

HGVS	Amino-acid change
ENST00000560229.6:n.110_113del
ENST00000562833.2:c.1351-216_1351-213del	ENSP00000454786.2:n.1351-216_1351-213del
ENST00000642270.1:c.1358-216_1358-213del	ENSP00000496443.1:n.1358-216_1358-213del
ENST00000647841.1:c.3+78_3+81del MANE Select	ENSP00000498019.1:n.3+78_3+81del
ENST00000330244.10:c.3+78_3+81del	ENSP00000346046.5:n.3+78_3+81del
ENST00000558397.1:c.3+78_3+81del	ENSP00000452889.1:n.3+78_3+81del
ENST00000559273.1:n.31+78_31+81del
ENST00000559776.1:n.72_75del
ENST00000560229.5:n.110_113del
ENST00000560639.1:n.27+78_27+81del
ENST00000561157.5:c.3+78_3+81del	ENSP00000453910.1:n.3+78_3+81del
ENST00000562833.1:c.780-216_780-213del
NM_001021.4:c.3+78_3+81del	NP_001012.1:n.3+78_3+81del
NR_111943.1:n.110_113del
NR_111944.1:n.119+78_119+81del
NM_001021.6:c.3+78_3+81del MANE Select	NP_001012.1:n.3+78_3+81del
NR_111944.2:n.139+78_139+81del
NR_111943.2:n.110_113del
NR_111944.3:n.32+78_32+81del