Canonical Allele Identifier: CA2678772542
Gene: PRPH2 HGNC NCBI

Linked Data

gnomAD v4: 6-42722277-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722280del , CM000668.2:g.42722280del GRCh38
NC_000006.11:g.42690018del , CM000668.1:g.42690018del GRCh37
NC_000006.10:g.42797996del NCBI36
NG_009176.1:g.5343del
NG_009176.2:g.5343del

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.57del MANE Select ENSP00000230381.5:p.Leu20SerfsTer4
ENST00000230381.6:c.57del ENSP00000230381.5:p.Leu20SerfsTer4
NM_000322.4:c.57del NP_000313.2:p.Leu20SerfsTer4
XR_427834.2:n.712del
XR_926295.1:n.712del
XR_427834.4:n.762del
XR_926295.3:n.762del
NM_000322.5:c.57del MANE Select NP_000313.2:p.Leu20SerfsTer4
Search 100 bp 5'
Search 100 bp 3'