Canonical Allele Identifier: CA1624187060
Gene: PRPH2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722017_42722019delinsAAC , CM000668.2:g.42722017_42722019delinsAAC GRCh38
NC_000006.11:g.42689755_42689757delinsAAC , CM000668.1:g.42689755_42689757delinsAAC GRCh37
NC_000006.10:g.42797733_42797735delinsAAC NCBI36
NG_009176.1:g.5602_5604delinsGTT
NG_009176.2:g.5602_5604delinsGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.316_318delinsGTT MANE Select ENSP00000230381.5:p.Val106=
ENST00000230381.6:c.316_318delinsGTT ENSP00000230381.5:p.Val106=
NM_000322.4:c.316_318delinsGTT NP_000313.2:p.Val106=
XR_427834.2:n.971_973delinsGTT
XR_926295.1:n.971_973delinsGTT
XR_427834.4:n.1021_1023delinsGTT
XR_926295.3:n.1021_1023delinsGTT
NM_000322.5:c.316_318delinsGTT MANE Select NP_000313.2:p.Val106=
Search 100 bp 5'
Search 100 bp 3'