Canonical Allele Identifier: CA2517630766
Gene: PRPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722354_42722355insTG , CM000668.2:g.42722354_42722355insTG GRCh38
NC_000006.11:g.42690092_42690093insTG , CM000668.1:g.42690092_42690093insTG GRCh37
NC_000006.10:g.42798070_42798071insTG NCBI36
NG_009176.1:g.5267_5268insAC
NG_009176.2:g.5267_5268insAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-20_-19insAC MANE Select ENSP00000230381.5:n.-20_-19insAC
ENST00000230381.6:c.-20_-19insAC ENSP00000230381.5:n.-20_-19insAC
NM_000322.4:c.-20_-19insAC NP_000313.2:n.-20_-19insAC
XR_427834.2:n.636_637insAC
XR_926295.1:n.636_637insAC
XR_427834.4:n.686_687insAC
XR_926295.3:n.686_687insAC
NM_000322.5:c.-20_-19insAC MANE Select NP_000313.2:n.-20_-19insAC