Canonical Allele Identifier: CA1139659530
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 973711
ClinVar RCV Id: RCV001250292 RCV001381387 RCV001530294
dbSNP Id: rs1761917286
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722173del , CM000668.2:g.42722173del GRCh38
NC_000006.11:g.42689911del , CM000668.1:g.42689911del GRCh37
NC_000006.10:g.42797889del NCBI36
NG_009176.1:g.5449del
NG_009176.2:g.5449del

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.163del MANE Select ENSP00000230381.5:p.Ser55LeufsTer10
ENST00000230381.6:c.163del ENSP00000230381.5:p.Ser55LeufsTer10
NM_000322.4:c.163del NP_000313.2:p.Ser55LeufsTer10
XR_427834.2:n.818del
XR_926295.1:n.818del
XR_427834.4:n.868del
XR_926295.3:n.868del
NM_000322.5:c.163del MANE Select NP_000313.2:p.Ser55LeufsTer10
Search 100 bp 5'
Search 100 bp 3'