Canonical Allele Identifier: CA2578864354
Gene: RP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33096427del , CM000669.2:g.33096427del GRCh38
NC_000007.13:g.33136039del , CM000669.1:g.33136039del GRCh37
NC_000007.12:g.33102564del NCBI36
NG_012968.1:g.17965del

Transcript Alleles

HGVS Amino-acid Change
ENST00000474370.2:n.2440+67del
ENST00000492391.2:n.1591+67del
ENST00000682645.1:n.3538+67del
ENST00000683432.1:c.*642+67del ENSP00000508174.1:n.*642+67del
ENST00000684207.1:c.*63del ENSP00000506942.1:n.*63del
ENST00000297157.8:c.467+67del MANE Select ENSP00000297157.3:n.467+67del
ENST00000297157.7:c.467+67del ENSP00000297157.3:n.467+67del
ENST00000448915.1:c.365+67del ENSP00000411577.1:n.365+67del
NM_203288.1:c.467+67del NP_976033.1:n.467+67del
XM_011515468.1:c.365+67del XP_011513770.1:n.365+67del
XM_011515468.3:c.365+67del XP_011513770.1:n.365+67del
NM_203288.2:c.467+67del MANE Select NP_976033.1:n.467+67del