Canonical Allele Identifier: CA1624186892

Gene: PRPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721670_42721672delinsCGG , CM000668.2:g.42721670_42721672delinsCGG	GRCh38
NC_000006.11:g.42689408_42689410delinsCGG , CM000668.1:g.42689408_42689410delinsCGG	GRCh37
NC_000006.10:g.42797386_42797388delinsCGG	NCBI36
NG_009176.1:g.5949_5951delinsCCG
NG_009176.2:g.5949_5951delinsCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.581+82_581+84delinsCCG MANE Select	ENSP00000230381.5:n.581+82_581+84delinsCCG
ENST00000230381.6:c.581+82_581+84delinsCCG	ENSP00000230381.5:n.581+82_581+84delinsCCG
NM_000322.4:c.581+82_581+84delinsCCG	NP_000313.2:n.581+82_581+84delinsCCG
XR_427834.2:n.1236+82_1236+84delinsCCG
XR_926295.1:n.1236+82_1236+84delinsCCG
XR_427834.4:n.1286+82_1286+84delinsCCG
XR_926295.3:n.1286+82_1286+84delinsCCG
NM_000322.5:c.581+82_581+84delinsCCG MANE Select	NP_000313.2:n.581+82_581+84delinsCCG