Canonical Allele Identifier: CA2678772562
Gene: PRPH2 HGNC NCBI

Linked Data

gnomAD v4: 6-42722379-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722383del , CM000668.2:g.42722383del GRCh38
NC_000006.11:g.42690121del , CM000668.1:g.42690121del GRCh37
NC_000006.10:g.42798099del NCBI36
NG_009176.1:g.5241del
NG_009176.2:g.5241del

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-46del MANE Select ENSP00000230381.5:n.-46del
ENST00000230381.6:c.-46del ENSP00000230381.5:n.-46del
NM_000322.4:c.-46del NP_000313.2:n.-46del
XR_427834.2:n.610del
XR_926295.1:n.610del
XR_427834.4:n.660del
XR_926295.3:n.660del
NM_000322.5:c.-46del MANE Select NP_000313.2:n.-46del
Search 100 bp 5'
Search 100 bp 3'