Canonical Allele Identifier: CA1624186878

Gene: PRPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721644_42721645delinsCG , CM000668.2:g.42721644_42721645delinsCG	GRCh38
NC_000006.11:g.42689382_42689383delinsCG , CM000668.1:g.42689382_42689383delinsCG	GRCh37
NC_000006.10:g.42797360_42797361delinsCG	NCBI36
NG_009176.1:g.5976_5977delinsCG
NG_009176.2:g.5976_5977delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.581+109_581+110delinsCG MANE Select	ENSP00000230381.5:n.581+109_581+110delinsCG
ENST00000230381.6:c.581+109_581+110delinsCG	ENSP00000230381.5:n.581+109_581+110delinsCG
NM_000322.4:c.581+109_581+110delinsCG	NP_000313.2:n.581+109_581+110delinsCG
XR_427834.2:n.1236+109_1236+110delinsCG
XR_926295.1:n.1236+109_1236+110delinsCG
XR_427834.4:n.1286+109_1286+110delinsCG
XR_926295.3:n.1286+109_1286+110delinsCG
NM_000322.5:c.581+109_581+110delinsCG MANE Select	NP_000313.2:n.581+109_581+110delinsCG