Canonical Allele Identifier: CA2499218304
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1175212
ClinVar RCV Id: RCV001530216
dbSNP Id: rs2152011018
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722067_42722070delinsGGCCCT , CM000668.2:g.42722067_42722070delinsGGCCCT GRCh38
NC_000006.11:g.42689805_42689808delinsGGCCCT , CM000668.1:g.42689805_42689808delinsGGCCCT GRCh37
NC_000006.10:g.42797783_42797786delinsGGCCCT NCBI36
NG_009176.1:g.5551_5554delinsAGGGCC
NG_009176.2:g.5551_5554delinsAGGGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.265_268delinsAGGGCC MANE Select ENSP00000230381.5:p.Ala89ArgfsTer11
ENST00000230381.6:c.265_268delinsAGGGCC ENSP00000230381.5:p.Ala89ArgfsTer11
NM_000322.4:c.265_268delinsAGGGCC NP_000313.2:p.Ala89ArgfsTer11
XR_427834.2:n.920_923delinsAGGGCC
XR_926295.1:n.920_923delinsAGGGCC
XR_427834.4:n.970_973delinsAGGGCC
XR_926295.3:n.970_973delinsAGGGCC
NM_000322.5:c.265_268delinsAGGGCC MANE Select NP_000313.2:p.Ala89ArgfsTer11
Search 100 bp 5'
Search 100 bp 3'