Canonical Allele Identifier: CA2505353392
Gene: PRPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722351_42722352insT , CM000668.2:g.42722351_42722352insT GRCh38
NC_000006.11:g.42690089_42690090insT , CM000668.1:g.42690089_42690090insT GRCh37
NC_000006.10:g.42798067_42798068insT NCBI36
NG_009176.1:g.5269_5270insA
NG_009176.2:g.5269_5270insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-18_-17insA MANE Select ENSP00000230381.5:n.-18_-17insA
ENST00000230381.6:c.-18_-17insA ENSP00000230381.5:n.-18_-17insA
NM_000322.4:c.-18_-17insA NP_000313.2:n.-18_-17insA
XR_427834.2:n.638_639insA
XR_926295.1:n.638_639insA
XR_427834.4:n.688_689insA
XR_926295.3:n.688_689insA
NM_000322.5:c.-18_-17insA MANE Select NP_000313.2:n.-18_-17insA