Canonical Allele Identifier: CA2507251882

Gene: PRPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722362_42722364del , CM000668.2:g.42722362_42722364del	GRCh38
NC_000006.11:g.42690100_42690102del , CM000668.1:g.42690100_42690102del	GRCh37
NC_000006.10:g.42798078_42798080del	NCBI36
NG_009176.1:g.5257_5259del
NG_009176.2:g.5257_5259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.-30_-28del MANE Select	ENSP00000230381.5:n.-30_-28del
ENST00000230381.6:c.-30_-28del	ENSP00000230381.5:n.-30_-28del
NM_000322.4:c.-30_-28del	NP_000313.2:n.-30_-28del
XR_427834.2:n.626_628del
XR_926295.1:n.626_628del
XR_427834.4:n.676_678del
XR_926295.3:n.676_678del
NM_000322.5:c.-30_-28del MANE Select	NP_000313.2:n.-30_-28del