Canonical Allele Identifier: CA2678772541
Gene: PRPH2 HGNC NCBI

Linked Data

gnomAD v4: 6-42722257-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722259del , CM000668.2:g.42722259del GRCh38
NC_000006.11:g.42689997del , CM000668.1:g.42689997del GRCh37
NC_000006.10:g.42797975del NCBI36
NG_009176.1:g.5363del
NG_009176.2:g.5363del

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.77del MANE Select ENSP00000230381.5:p.Phe26SerfsTer12
ENST00000230381.6:c.77del ENSP00000230381.5:p.Phe26SerfsTer12
NM_000322.4:c.77del NP_000313.2:p.Phe26SerfsTer12
XR_427834.2:n.732del
XR_926295.1:n.732del
XR_427834.4:n.782del
XR_926295.3:n.782del
NM_000322.5:c.77del MANE Select NP_000313.2:p.Phe26SerfsTer12
Search 100 bp 5'
Search 100 bp 3'