Canonical Allele Identifier: CA226222
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs61755777

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721982_42721984del , CM000668.2:g.42721982_42721984del GRCh38
NC_000006.11:g.42689720_42689722del , CM000668.1:g.42689720_42689722del GRCh37
NC_000006.10:g.42797698_42797700del NCBI36
NG_009176.1:g.5642_5644del
NG_009176.2:g.5642_5644del

Transcript Alleles

HGVS Amino-acid change
ENST00000230381.7:c.356_358del MANE Select ENSP00000230381.5:p.Cys119del
ENST00000230381.6:c.356_358del ENSP00000230381.5:p.Cys119del
NM_000322.4:c.356_358del NP_000313.2:p.Cys119del
XR_427834.2:n.1011_1013del
XR_926295.1:n.1011_1013del
XR_427834.4:n.1061_1063del
XR_926295.3:n.1061_1063del
NM_000322.5:c.356_358del MANE Select NP_000313.2:p.Cys119del