Canonical Allele Identifier: CA2678772538
Gene: PRPH2 HGNC NCBI

Linked Data

gnomAD v4: 6-42722201-AG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722202del , CM000668.2:g.42722202del GRCh38
NC_000006.11:g.42689940del , CM000668.1:g.42689940del GRCh37
NC_000006.10:g.42797918del NCBI36
NG_009176.1:g.5419del
NG_009176.2:g.5419del

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.133del MANE Select ENSP00000230381.5:p.Leu45SerfsTer7
ENST00000230381.6:c.133del ENSP00000230381.5:p.Leu45SerfsTer7
NM_000322.4:c.133del NP_000313.2:p.Leu45SerfsTer7
XR_427834.2:n.788del
XR_926295.1:n.788del
XR_427834.4:n.838del
XR_926295.3:n.838del
NM_000322.5:c.133del MANE Select NP_000313.2:p.Leu45SerfsTer7
Search 100 bp 5'
Search 100 bp 3'