Canonical Allele Identifier: CA1624187166
Gene: PRPH2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722260_42722262delinsCCA , CM000668.2:g.42722260_42722262delinsCCA GRCh38
NC_000006.11:g.42689998_42690000delinsCCA , CM000668.1:g.42689998_42690000delinsCCA GRCh37
NC_000006.10:g.42797976_42797978delinsCCA NCBI36
NG_009176.1:g.5359_5361delinsTGG
NG_009176.2:g.5359_5361delinsTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.73_75delinsTGG MANE Select ENSP00000230381.5:p.Trp25=
ENST00000230381.6:c.73_75delinsTGG ENSP00000230381.5:p.Trp25=
NM_000322.4:c.73_75delinsTGG NP_000313.2:p.Trp25=
XR_427834.2:n.728_730delinsTGG
XR_926295.1:n.728_730delinsTGG
XR_427834.4:n.778_780delinsTGG
XR_926295.3:n.778_780delinsTGG
NM_000322.5:c.73_75delinsTGG MANE Select NP_000313.2:p.Trp25=
Search 100 bp 5'
Search 100 bp 3'