Canonical Allele Identifier: CA2695206299
Gene: PRPH2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721979_42721983delinsAG , CM000668.2:g.42721979_42721983delinsAG GRCh38
NC_000006.11:g.42689717_42689721delinsAG , CM000668.1:g.42689717_42689721delinsAG GRCh37
NC_000006.10:g.42797695_42797699delinsAG NCBI36
NG_009176.1:g.5638_5642delinsCT
NG_009176.2:g.5638_5642delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.352_356delinsCT MANE Select ENSP00000230381.5:p.Cys118_Cys119delinsLeu
ENST00000230381.6:c.352_356delinsCT ENSP00000230381.5:p.Cys118_Cys119delinsLeu
NM_000322.4:c.352_356delinsCT NP_000313.2:p.Cys118_Cys119delinsLeu
XR_427834.2:n.1007_1011delinsCT
XR_926295.1:n.1007_1011delinsCT
XR_427834.4:n.1057_1061delinsCT
XR_926295.3:n.1057_1061delinsCT
NM_000322.5:c.352_356delinsCT MANE Select NP_000313.2:p.Cys118_Cys119delinsLeu
Search 100 bp 5'
Search 100 bp 3'