Canonical Allele Identifier: CA156254149

Gene: RP9

Linked Data

• dbSNP Id: rs778903416
• gnomAD v4: 7-33096623-CTA-C
• MyVariant Identifiers: chr7:g.33136236_33136237del (hg19) ; chr7:g.33096624_33096625del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096625_33096626del , CM000669.2:g.33096625_33096626del	GRCh38
NC_000007.13:g.33136237_33136238del , CM000669.1:g.33136237_33136238del	GRCh37
NC_000007.12:g.33102762_33102763del	NCBI36
NG_012968.1:g.17766_17767del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2379-71_2379-70del
ENST00000492391.2:n.1530-71_1530-70del
ENST00000682645.1:n.3477-71_3477-70del
ENST00000683432.1:c.*581-71_*581-70del	ENSP00000508174.1:n.*581-71_*581-70del
ENST00000684207.1:c.406-71_406-70del	ENSP00000506942.1:n.406-71_406-70del
ENST00000297157.8:c.406-71_406-70del MANE Select	ENSP00000297157.3:n.406-71_406-70del
ENST00000297157.7:c.406-71_406-70del	ENSP00000297157.3:n.406-71_406-70del
ENST00000448915.1:c.304-71_304-70del	ENSP00000411577.1:n.304-71_304-70del
NM_203288.1:c.406-71_406-70del	NP_976033.1:n.406-71_406-70del
XM_011515468.1:c.304-71_304-70del	XP_011513770.1:n.304-71_304-70del
XM_011515468.3:c.304-71_304-70del	XP_011513770.1:n.304-71_304-70del
NM_203288.2:c.406-71_406-70del MANE Select	NP_976033.1:n.406-71_406-70del