Canonical Allele Identifier: CA3808623
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 684461
ClinVar RCV Id: RCV000844928 RCV001061370 RCV001250304 RCV001530283
dbSNP Id: rs769723975
ExAC: 6:42689678 TG / T
gnomAD v2: 6-42689678-TG-T
gnomAD v4: 6-42721940-TG-T
MyVariant Identifiers: chr6:g.42689679del (hg19) chr6:g.42721941del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721942del , CM000668.2:g.42721942del GRCh38
NC_000006.11:g.42689680del , CM000668.1:g.42689680del GRCh37
NC_000006.10:g.42797658del NCBI36
NG_009176.1:g.5680del
NG_009176.2:g.5680del

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.394del MANE Select ENSP00000230381.5:p.Gln132LysfsTer7
ENST00000230381.6:c.394del ENSP00000230381.5:p.Gln132LysfsTer7
NM_000322.4:c.394del NP_000313.2:p.Gln132LysfsTer7
XR_427834.2:n.1049del
XR_926295.1:n.1049del
XR_427834.4:n.1099del
XR_926295.3:n.1099del
NM_000322.5:c.394del MANE Select NP_000313.2:p.Gln132LysfsTer7
Search 100 bp 5'
Search 100 bp 3'