Canonical Allele Identifier: CA226235
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 98668
dbSNP Id: rs61755784

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721894del , CM000668.2:g.42721894del GRCh38
NC_000006.11:g.42689632del , CM000668.1:g.42689632del GRCh37
NC_000006.10:g.42797610del NCBI36
NG_009176.1:g.5727del
NG_009176.2:g.5727del

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.441del MANE Select ENSP00000230381.5:p.Gly148AlafsTer5
ENST00000230381.6:c.441del ENSP00000230381.5:p.Gly148AlafsTer5
NM_000322.4:c.441del NP_000313.2:p.Gly148AlafsTer5
XR_427834.2:n.1096del
XR_926295.1:n.1096del
XR_427834.4:n.1146del
XR_926295.3:n.1146del
NM_000322.5:c.441del MANE Select NP_000313.2:p.Gly148AlafsTer5