Canonical Allele Identifier: CA2534444345

Gene: PRPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722373_42722378del , CM000668.2:g.42722373_42722378del	GRCh38
NC_000006.11:g.42690111_42690116del , CM000668.1:g.42690111_42690116del	GRCh37
NC_000006.10:g.42798089_42798094del	NCBI36
NG_009176.1:g.5243_5248del
NG_009176.2:g.5243_5248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.-44_-39del MANE Select	ENSP00000230381.5:n.-44_-39del
ENST00000230381.6:c.-44_-39del	ENSP00000230381.5:n.-44_-39del
NM_000322.4:c.-44_-39del	NP_000313.2:n.-44_-39del
XR_427834.2:n.612_617del
XR_926295.1:n.612_617del
XR_427834.4:n.662_667del
XR_926295.3:n.662_667del
NM_000322.5:c.-44_-39del MANE Select	NP_000313.2:n.-44_-39del