Canonical Allele Identifier: CA2678772540
Gene: PRPH2 HGNC NCBI

Linked Data

gnomAD v4: 6-42722237-A-ATG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722238_42722239dup , CM000668.2:g.42722238_42722239dup GRCh38
NC_000006.11:g.42689976_42689977dup , CM000668.1:g.42689976_42689977dup GRCh37
NC_000006.10:g.42797954_42797955dup NCBI36
NG_009176.1:g.5382_5383dup
NG_009176.2:g.5382_5383dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.96_97dup MANE Select ENSP00000230381.5:p.Ile33ThrfsTer6
ENST00000230381.6:c.96_97dup ENSP00000230381.5:p.Ile33ThrfsTer6
NM_000322.4:c.96_97dup NP_000313.2:p.Ile33ThrfsTer6
XR_427834.2:n.751_752dup
XR_926295.1:n.751_752dup
XR_427834.4:n.801_802dup
XR_926295.3:n.801_802dup
NM_000322.5:c.96_97dup MANE Select NP_000313.2:p.Ile33ThrfsTer6
Search 100 bp 5'
Search 100 bp 3'