Canonical Allele Identifier: CA2572251841
Gene: PRPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722368_42722369del , CM000668.2:g.42722368_42722369del GRCh38
NC_000006.11:g.42690106_42690107del , CM000668.1:g.42690106_42690107del GRCh37
NC_000006.10:g.42798084_42798085del NCBI36
NG_009176.1:g.5252_5253del
NG_009176.2:g.5252_5253del

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-35_-34del MANE Select ENSP00000230381.5:n.-35_-34del
ENST00000230381.6:c.-35_-34del ENSP00000230381.5:n.-35_-34del
NM_000322.4:c.-35_-34del NP_000313.2:n.-35_-34del
XR_427834.2:n.621_622del
XR_926295.1:n.621_622del
XR_427834.4:n.671_672del
XR_926295.3:n.671_672del
NM_000322.5:c.-35_-34del MANE Select NP_000313.2:n.-35_-34del