Canonical Allele Identifier: CA2580074538
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2022646
ClinVar RCV Id: RCV002852641
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722215del , CM000668.2:g.42722215del GRCh38
NC_000006.11:g.42689953del , CM000668.1:g.42689953del GRCh37
NC_000006.10:g.42797931del NCBI36
NG_009176.1:g.5407del
NG_009176.2:g.5407del

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.121del MANE Select ENSP00000230381.5:p.Leu41Ter
ENST00000230381.6:c.121del ENSP00000230381.5:p.Leu41Ter
NM_000322.4:c.121del NP_000313.2:p.Leu41Ter
XR_427834.2:n.776del
XR_926295.1:n.776del
XR_427834.4:n.826del
XR_926295.3:n.826del
NM_000322.5:c.121del MANE Select NP_000313.2:p.Leu41Ter
Search 100 bp 5'
Search 100 bp 3'