Canonical Allele Identifier: CA2524916710
Gene: PRPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722349_42722350insA , CM000668.2:g.42722349_42722350insA GRCh38
NC_000006.11:g.42690087_42690088insA , CM000668.1:g.42690087_42690088insA GRCh37
NC_000006.10:g.42798065_42798066insA NCBI36
NG_009176.1:g.5271_5272insT
NG_009176.2:g.5271_5272insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-16_-15insT MANE Select ENSP00000230381.5:n.-16_-15insT
ENST00000230381.6:c.-16_-15insT ENSP00000230381.5:n.-16_-15insT
NM_000322.4:c.-16_-15insT NP_000313.2:n.-16_-15insT
XR_427834.2:n.640_641insT
XR_926295.1:n.640_641insT
XR_427834.4:n.690_691insT
XR_926295.3:n.690_691insT
NM_000322.5:c.-16_-15insT MANE Select NP_000313.2:n.-16_-15insT