Canonical Allele Identifier: CA2678772483
Gene: PRPH2 HGNC NCBI

Linked Data

gnomAD v4: 6-42721654-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721658del , CM000668.2:g.42721658del GRCh38
NC_000006.11:g.42689396del , CM000668.1:g.42689396del GRCh37
NC_000006.10:g.42797374del NCBI36
NG_009176.1:g.5966del
NG_009176.2:g.5966del

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.581+99del MANE Select ENSP00000230381.5:n.581+99del
ENST00000230381.6:c.581+99del ENSP00000230381.5:n.581+99del
NM_000322.4:c.581+99del NP_000313.2:n.581+99del
XR_427834.2:n.1236+99del
XR_926295.1:n.1236+99del
XR_427834.4:n.1286+99del
XR_926295.3:n.1286+99del
NM_000322.5:c.581+99del MANE Select NP_000313.2:n.581+99del
Search 100 bp 5'
Search 100 bp 3'