Canonical Allele Identifier: CA2504076348

Gene: PRPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722341_42722342del , CM000668.2:g.42722341_42722342del	GRCh38
NC_000006.11:g.42690079_42690080del , CM000668.1:g.42690079_42690080del	GRCh37
NC_000006.10:g.42798057_42798058del	NCBI36
NG_009176.1:g.5279_5280del
NG_009176.2:g.5279_5280del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.-8_-7del MANE Select	ENSP00000230381.5:n.-8_-7del
ENST00000230381.6:c.-8_-7del	ENSP00000230381.5:n.-8_-7del
NM_000322.4:c.-8_-7del	NP_000313.2:n.-8_-7del
XR_427834.2:n.648_649del
XR_926295.1:n.648_649del
XR_427834.4:n.698_699del
XR_926295.3:n.698_699del
NM_000322.5:c.-8_-7del MANE Select	NP_000313.2:n.-8_-7del