Canonical Allele Identifier: CA2520631259
Gene: PRPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722359_42722360insCGTATCA , CM000668.2:g.42722359_42722360insCGTATCA GRCh38
NC_000006.11:g.42690097_42690098insCGTATCA , CM000668.1:g.42690097_42690098insCGTATCA GRCh37
NC_000006.10:g.42798075_42798076insCGTATCA NCBI36
NG_009176.1:g.5261_5262insTGATACG
NG_009176.2:g.5261_5262insTGATACG

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-26_-25insTGATACG MANE Select ENSP00000230381.5:n.-26_-25insTGATACG
ENST00000230381.6:c.-26_-25insTGATACG ENSP00000230381.5:n.-26_-25insTGATACG
NM_000322.4:c.-26_-25insTGATACG NP_000313.2:n.-26_-25insTGATACG
XR_427834.2:n.630_631insTGATACG
XR_926295.1:n.630_631insTGATACG
XR_427834.4:n.680_681insTGATACG
XR_926295.3:n.680_681insTGATACG
NM_000322.5:c.-26_-25insTGATACG MANE Select NP_000313.2:n.-26_-25insTGATACG