Canonical Allele Identifier: CA837767637

Gene: RP9

Linked Data

• dbSNP Id: rs1240593224
• MyVariant Identifiers: chr7:g.33136126_33136128del (hg19) ; chr7:g.33096514_33096516del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096516_33096518del , CM000669.2:g.33096516_33096518del	GRCh38
NC_000007.13:g.33136128_33136130del , CM000669.1:g.33136128_33136130del	GRCh37
NC_000007.12:g.33102653_33102655del	NCBI36
NG_012968.1:g.17875_17877del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2417_2419del
ENST00000492391.2:n.1568_1570del
ENST00000682645.1:n.3515_3517del
ENST00000683432.1:c.*619_*621del	ENSP00000508174.1:n.*619_*621del
ENST00000684207.1:c.444_446del	ENSP00000506942.1:p.Asn148del
ENST00000297157.8:c.444_446del MANE Select	ENSP00000297157.3:p.Asn148del
ENST00000297157.7:c.444_446del	ENSP00000297157.3:p.Asn148del
ENST00000448915.1:c.342_344del	ENSP00000411577.1:p.Asn114del
NM_203288.1:c.444_446del	NP_976033.1:p.Asn148del
XM_011515468.1:c.342_344del	XP_011513770.1:p.Asn114del
XM_011515468.3:c.342_344del	XP_011513770.1:p.Asn114del
NM_203288.2:c.444_446del MANE Select	NP_976033.1:p.Asn148del