Canonical Allele Identifier: CA2682311873

Gene: RP9

Linked Data

• gnomAD v4: 7-33096529-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096531_33096532del , CM000669.2:g.33096531_33096532del	GRCh38
NC_000007.13:g.33136143_33136144del , CM000669.1:g.33136143_33136144del	GRCh37
NC_000007.12:g.33102668_33102669del	NCBI36
NG_012968.1:g.17860_17861del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2402_2403del
ENST00000492391.2:n.1553_1554del
ENST00000682645.1:n.3500_3501del
ENST00000683432.1:c.*604_*605del	ENSP00000508174.1:n.*604_*605del
ENST00000684207.1:c.429_430del	ENSP00000506942.1:p.Ile144HisfsTer5
ENST00000297157.8:c.429_430del MANE Select	ENSP00000297157.3:p.Ile144HisfsTer5
ENST00000297157.7:c.429_430del	ENSP00000297157.3:p.Ile144HisfsTer5
ENST00000448915.1:c.327_328del	ENSP00000411577.1:p.Ile110HisfsTer5
NM_203288.1:c.429_430del	NP_976033.1:p.Ile144HisfsTer5
XM_011515468.1:c.327_328del	XP_011513770.1:p.Ile110HisfsTer5
XM_011515468.3:c.327_328del	XP_011513770.1:p.Ile110HisfsTer5
NM_203288.2:c.429_430del MANE Select	NP_976033.1:p.Ile144HisfsTer5