Canonical Allele Identifier: CA2573158483
Gene: RS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1504744
ClinVar RCV Id: RCV002047875
dbSNP Id: rs2147209810
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18672057_18672059del , CM000685.2:g.18672057_18672059del GRCh38
NC_000023.10:g.18690177_18690179del , CM000685.1:g.18690177_18690179del GRCh37
NC_000023.9:g.18600098_18600100del NCBI36
NG_008659.3:g.10391_10393del , LRG_702:g.10391_10393del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.11_13del MANE Select ENSP00000369320.3:p.Lys4del
ENST00000379984.3:c.11_13del ENSP00000369320.3:p.Lys4del
NM_000330.3:c.11_13del , LRG_702t1:c.11_13del NP_000321.1:p.Lys4del
NM_000330.4:c.11_13del MANE Select NP_000321.1:p.Lys4del
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Search 100 bp 3'