Canonical Allele Identifier: CA2678772254
Gene: PRPH2 HGNC NCBI

Linked Data

gnomAD v4: 6-42704620-GAAAC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42704622_42704625del , CM000668.2:g.42704622_42704625del GRCh38
NC_000006.11:g.42672360_42672363del , CM000668.1:g.42672360_42672363del GRCh37
NC_000006.10:g.42780338_42780341del NCBI36
NG_009176.1:g.22997_23000del
NG_009176.2:g.22997_23000del

Transcript Alleles

HGVS Amino-acid change
ENST00000230381.7:c.582-13_582-10del MANE Select ENSP00000230381.5:n.582-13_582-10del
ENST00000230381.6:c.582-13_582-10del ENSP00000230381.5:n.582-13_582-10del
NM_000322.4:c.582-13_582-10del NP_000313.2:n.582-13_582-10del
XR_427834.2:n.1237-13_1237-10del
XR_926295.1:n.1419-13_1419-10del
XR_427834.4:n.1287-13_1287-10del
XR_926295.3:n.1469-13_1469-10del
NM_000322.5:c.582-13_582-10del MANE Select NP_000313.2:n.582-13_582-10del
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