Canonical Allele Identifier: CA2578864356
Gene: RP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33096431del , CM000669.2:g.33096431del GRCh38
NC_000007.13:g.33136043del , CM000669.1:g.33136043del GRCh37
NC_000007.12:g.33102568del NCBI36
NG_012968.1:g.17963del

Transcript Alleles

HGVS Amino-acid Change
ENST00000474370.2:n.2440+65del
ENST00000492391.2:n.1591+65del
ENST00000682645.1:n.3538+65del
ENST00000683432.1:c.*642+65del ENSP00000508174.1:n.*642+65del
ENST00000684207.1:c.*61del ENSP00000506942.1:n.*61del
ENST00000297157.8:c.467+65del MANE Select ENSP00000297157.3:n.467+65del
ENST00000297157.7:c.467+65del ENSP00000297157.3:n.467+65del
ENST00000448915.1:c.365+65del ENSP00000411577.1:n.365+65del
NM_203288.1:c.467+65del NP_976033.1:n.467+65del
XM_011515468.1:c.365+65del XP_011513770.1:n.365+65del
XM_011515468.3:c.365+65del XP_011513770.1:n.365+65del
NM_203288.2:c.467+65del MANE Select NP_976033.1:n.467+65del