Canonical Allele Identifier: CA156254319

Gene: RP9

Linked Data

• dbSNP Id: rs59988925
• gnomAD v2: 7-33136419-TCA-T
• gnomAD v3: 7-33096807-TCA-T
• gnomAD v4: 7-33096807-TCA-T
• MyVariant Identifiers: chr7:g.33136420_33136421del (hg19) ; chr7:g.33096808_33096809del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096810_33096811del , CM000669.2:g.33096810_33096811del	GRCh38
NC_000007.13:g.33136422_33136423del , CM000669.1:g.33136422_33136423del	GRCh37
NC_000007.12:g.33102947_33102948del	NCBI36
NG_012968.1:g.17582_17583del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2379-255_2379-254del
ENST00000492391.2:n.1530-255_1530-254del
ENST00000682645.1:n.3477-255_3477-254del
ENST00000683432.1:c.*581-255_*581-254del	ENSP00000508174.1:n.*581-255_*581-254del
ENST00000684207.1:c.406-255_406-254del	ENSP00000506942.1:n.406-255_406-254del
ENST00000297157.8:c.406-255_406-254del MANE Select	ENSP00000297157.3:n.406-255_406-254del
ENST00000297157.7:c.406-255_406-254del	ENSP00000297157.3:n.406-255_406-254del
ENST00000448915.1:c.304-255_304-254del	ENSP00000411577.1:n.304-255_304-254del
NM_203288.1:c.406-255_406-254del	NP_976033.1:n.406-255_406-254del
XM_011515468.1:c.304-255_304-254del	XP_011513770.1:n.304-255_304-254del
XM_011515468.3:c.304-255_304-254del	XP_011513770.1:n.304-255_304-254del
NM_203288.2:c.406-255_406-254del MANE Select	NP_976033.1:n.406-255_406-254del