Canonical Allele Identifier: CA156254321

Gene: RP9

Linked Data

• dbSNP Id: rs1038395390
• gnomAD v3: 7-33096816-TATAACACTGCC-T
• gnomAD v4: 7-33096816-TATAACACTGCC-T
• MyVariant Identifiers: chr7:g.33136429_33136439del (hg19) ; chr7:g.33096817_33096827del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096818_33096828del , CM000669.2:g.33096818_33096828del	GRCh38
NC_000007.13:g.33136430_33136440del , CM000669.1:g.33136430_33136440del	GRCh37
NC_000007.12:g.33102955_33102965del	NCBI36
NG_012968.1:g.17564_17574del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2379-273_2379-263del
ENST00000492391.2:n.1530-273_1530-263del
ENST00000682645.1:n.3477-273_3477-263del
ENST00000683432.1:c.*581-273_*581-263del	ENSP00000508174.1:n.*581-273_*581-263del
ENST00000684207.1:c.406-273_406-263del	ENSP00000506942.1:n.406-273_406-263del
ENST00000297157.8:c.406-273_406-263del MANE Select	ENSP00000297157.3:n.406-273_406-263del
ENST00000297157.7:c.406-273_406-263del	ENSP00000297157.3:n.406-273_406-263del
ENST00000448915.1:c.304-273_304-263del	ENSP00000411577.1:n.304-273_304-263del
NM_203288.1:c.406-273_406-263del	NP_976033.1:n.406-273_406-263del
XM_011515468.1:c.304-273_304-263del	XP_011513770.1:n.304-273_304-263del
XM_011515468.3:c.304-273_304-263del	XP_011513770.1:n.304-273_304-263del
NM_203288.2:c.406-273_406-263del MANE Select	NP_976033.1:n.406-273_406-263del