Canonical Allele Identifier: CA2580615870

Gene: RP9

Linked Data

• ClinVar Variation Id: 2002491
• ClinVar RCV Id: RCV002832984

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096485_33096487del , CM000669.2:g.33096485_33096487del	GRCh38
NC_000007.13:g.33136097_33136099del , CM000669.1:g.33136097_33136099del	GRCh37
NC_000007.12:g.33102622_33102624del	NCBI36
NG_012968.1:g.17907_17909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2440+9_2440+11del
ENST00000492391.2:n.1591+9_1591+11del
ENST00000682645.1:n.3538+9_3538+11del
ENST00000683432.1:c.*642+9_*642+11del	ENSP00000508174.1:n.*642+9_*642+11del
ENST00000684207.1:c.*5_*7del	ENSP00000506942.1:n.*5_*7del
ENST00000297157.8:c.467+9_467+11del MANE Select	ENSP00000297157.3:n.467+9_467+11del
ENST00000297157.7:c.467+9_467+11del	ENSP00000297157.3:n.467+9_467+11del
ENST00000448915.1:c.365+9_365+11del	ENSP00000411577.1:n.365+9_365+11del
NM_203288.1:c.467+9_467+11del	NP_976033.1:n.467+9_467+11del
XM_011515468.1:c.365+9_365+11del	XP_011513770.1:n.365+9_365+11del
XM_011515468.3:c.365+9_365+11del	XP_011513770.1:n.365+9_365+11del
NM_203288.2:c.467+9_467+11del MANE Select	NP_976033.1:n.467+9_467+11del