Canonical Allele Identifier: CA1624187039
Gene: PRPH2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721963_42721964delinsGC , CM000668.2:g.42721963_42721964delinsGC GRCh38
NC_000006.11:g.42689701_42689702delinsGC , CM000668.1:g.42689701_42689702delinsGC GRCh37
NC_000006.10:g.42797679_42797680delinsGC NCBI36
NG_009176.1:g.5657_5658delinsGC
NG_009176.2:g.5657_5658delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.371_372delinsGC MANE Select ENSP00000230381.5:p.Gly124=
ENST00000230381.6:c.371_372delinsGC ENSP00000230381.5:p.Gly124=
NM_000322.4:c.371_372delinsGC NP_000313.2:p.Gly124=
XR_427834.2:n.1026_1027delinsGC
XR_926295.1:n.1026_1027delinsGC
XR_427834.4:n.1076_1077delinsGC
XR_926295.3:n.1076_1077delinsGC
NM_000322.5:c.371_372delinsGC MANE Select NP_000313.2:p.Gly124=
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