Canonical Allele Identifier: CA1624187005
Gene: PRPH2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721894_42721895delinsAG , CM000668.2:g.42721894_42721895delinsAG GRCh38
NC_000006.11:g.42689632_42689633delinsAG , CM000668.1:g.42689632_42689633delinsAG GRCh37
NC_000006.10:g.42797610_42797611delinsAG NCBI36
NG_009176.1:g.5726_5727delinsCT
NG_009176.2:g.5726_5727delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.440_441delinsCT MANE Select ENSP00000230381.5:p.Pro147=
ENST00000230381.6:c.440_441delinsCT ENSP00000230381.5:p.Pro147=
NM_000322.4:c.440_441delinsCT NP_000313.2:p.Pro147=
XR_427834.2:n.1095_1096delinsCT
XR_926295.1:n.1095_1096delinsCT
XR_427834.4:n.1145_1146delinsCT
XR_926295.3:n.1145_1146delinsCT
NM_000322.5:c.440_441delinsCT MANE Select NP_000313.2:p.Pro147=
Search 100 bp 5'
Search 100 bp 3'