Canonical Allele Identifier: CA454342352
Gene: RP9 HGNC NCBI

Linked Data

gnomAD v4: 7-33096480-AG-A
MyVariant Identifiers: chr7:g.33136093del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33096482del , CM000669.2:g.33096482del GRCh38
NC_000007.13:g.33136094del , CM000669.1:g.33136094del GRCh37
NC_000007.12:g.33102619del NCBI36
NG_012968.1:g.17910del

Transcript Alleles

HGVS Amino-acid change
ENST00000474370.2:n.2440+12del
ENST00000492391.2:n.1591+12del
ENST00000682645.1:n.3538+12del
ENST00000683432.1:c.*642+12del ENSP00000508174.1:n.*642+12del
ENST00000684207.1:c.*8del ENSP00000506942.1:n.*8del
ENST00000297157.8:c.467+12del MANE Select ENSP00000297157.3:n.467+12del
ENST00000297157.7:c.467+12del ENSP00000297157.3:n.467+12del
ENST00000448915.1:c.365+12del ENSP00000411577.1:n.365+12del
NM_203288.1:c.467+12del NP_976033.1:n.467+12del
XM_011515468.1:c.365+12del XP_011513770.1:n.365+12del
XM_011515468.3:c.365+12del XP_011513770.1:n.365+12del
NM_203288.2:c.467+12del MANE Select NP_976033.1:n.467+12del
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