Canonical Allele Identifier: CA156254152
Gene: RP9 HGNC NCBI

Linked Data

dbSNP Id: rs1002786165
gnomAD v4: 7-33096632-GA-G
MyVariant Identifiers: chr7:g.33136245del (hg19) chr7:g.33096633del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33096636del , CM000669.2:g.33096636del GRCh38
NC_000007.13:g.33136248del , CM000669.1:g.33136248del GRCh37
NC_000007.12:g.33102773del NCBI36
NG_012968.1:g.17758del

Transcript Alleles

HGVS Amino-acid Change
ENST00000474370.2:n.2379-79del
ENST00000492391.2:n.1530-79del
ENST00000682645.1:n.3477-79del
ENST00000683432.1:c.*581-79del ENSP00000508174.1:n.*581-79del
ENST00000684207.1:c.406-79del ENSP00000506942.1:n.406-79del
ENST00000297157.8:c.406-79del MANE Select ENSP00000297157.3:n.406-79del
ENST00000297157.7:c.406-79del ENSP00000297157.3:n.406-79del
ENST00000448915.1:c.304-79del ENSP00000411577.1:n.304-79del
NM_203288.1:c.406-79del NP_976033.1:n.406-79del
XM_011515468.1:c.304-79del XP_011513770.1:n.304-79del
XM_011515468.3:c.304-79del XP_011513770.1:n.304-79del
NM_203288.2:c.406-79del MANE Select NP_976033.1:n.406-79del
Search 100 bp 5'
Search 100 bp 3'