Canonical Allele Identifier: CA650890111

Gene: PRPH2

Linked Data

• COSMIC: COSN19225580

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722388_42722389insA , CM000668.2:g.42722388_42722389insA	GRCh38
NC_000006.11:g.42690126_42690127insA , CM000668.1:g.42690126_42690127insA	GRCh37
NC_000006.10:g.42798104_42798105insA	NCBI36
NG_009176.1:g.5232_5233insT
NG_009176.2:g.5232_5233insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.-55_-54insT MANE Select	ENSP00000230381.5:n.-55_-54insT
ENST00000230381.6:c.-55_-54insT	ENSP00000230381.5:n.-55_-54insT
NM_000322.4:c.-55_-54insT	NP_000313.2:n.-55_-54insT
XR_427834.2:n.601_602insT
XR_926295.1:n.601_602insT
XR_427834.4:n.651_652insT
XR_926295.3:n.651_652insT
NM_000322.5:c.-55_-54insT MANE Select	NP_000313.2:n.-55_-54insT