Canonical Allele Identifier: CA2678772570
Gene: PRPH2 HGNC NCBI

Linked Data

gnomAD v4: 6-42722396-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722399del , CM000668.2:g.42722399del GRCh38
NC_000006.11:g.42690137del , CM000668.1:g.42690137del GRCh37
NC_000006.10:g.42798115del NCBI36
NG_009176.1:g.5224del
NG_009176.2:g.5224del

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-63del MANE Select ENSP00000230381.5:n.-63del
ENST00000230381.6:c.-63del ENSP00000230381.5:n.-63del
NM_000322.4:c.-63del NP_000313.2:n.-63del
XR_427834.2:n.593del
XR_926295.1:n.593del
XR_427834.4:n.643del
XR_926295.3:n.643del
NM_000322.5:c.-63del MANE Select NP_000313.2:n.-63del
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