Canonical Allele Identifier: CA2770821341

Gene: PRPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722385_42722386insCAAACCAAACACACCCAACAC , CM000668.2:g.42722385_42722386insCAAACCAAACACACCCAACAC	GRCh38
NC_000006.11:g.42690123_42690124insCAAACCAAACACACCCAACAC , CM000668.1:g.42690123_42690124insCAAACCAAACACACCCAACAC	GRCh37
NC_000006.10:g.42798101_42798102insCAAACCAAACACACCCAACAC	NCBI36
NG_009176.1:g.5235_5236insGTGTTGGGTGTGTTTGGTTTG
NG_009176.2:g.5235_5236insGTGTTGGGTGTGTTTGGTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.-52_-51insGTGTTGGGTGTGTTTGGTTTG MANE Select	ENSP00000230381.5:n.-52_-51insGTGTTGGGTGTGTTTGGTTTG
ENST00000230381.6:c.-52_-51insGTGTTGGGTGTGTTTGGTTTG	ENSP00000230381.5:n.-52_-51insGTGTTGGGTGTGTTTGGTTTG
NM_000322.4:c.-52_-51insGTGTTGGGTGTGTTTGGTTTG	NP_000313.2:n.-52_-51insGTGTTGGGTGTGTTTGGTTTG
XR_427834.2:n.604_605insGTGTTGGGTGTGTTTGGTTTG
XR_926295.1:n.604_605insGTGTTGGGTGTGTTTGGTTTG
XR_427834.4:n.654_655insGTGTTGGGTGTGTTTGGTTTG
XR_926295.3:n.654_655insGTGTTGGGTGTGTTTGGTTTG
NM_000322.5:c.-52_-51insGTGTTGGGTGTGTTTGGTTTG MANE Select	NP_000313.2:n.-52_-51insGTGTTGGGTGTGTTTGGTTTG