Canonical Allele Identifier: CA1624187149
Gene: PRPH2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722221_42722222delinsTC , CM000668.2:g.42722221_42722222delinsTC GRCh38
NC_000006.11:g.42689959_42689960delinsTC , CM000668.1:g.42689959_42689960delinsTC GRCh37
NC_000006.10:g.42797937_42797938delinsTC NCBI36
NG_009176.1:g.5399_5400delinsGA
NG_009176.2:g.5399_5400delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.113_114delinsGA MANE Select ENSP00000230381.5:p.Gly38=
ENST00000230381.6:c.113_114delinsGA ENSP00000230381.5:p.Gly38=
NM_000322.4:c.113_114delinsGA NP_000313.2:p.Gly38=
XR_427834.2:n.768_769delinsGA
XR_926295.1:n.768_769delinsGA
XR_427834.4:n.818_819delinsGA
XR_926295.3:n.818_819delinsGA
NM_000322.5:c.113_114delinsGA MANE Select NP_000313.2:p.Gly38=
Search 100 bp 5'
Search 100 bp 3'