Canonical Allele Identifier: CA1698611578

Gene: RP9

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096513_33096516delinsTTTA , CM000669.2:g.33096513_33096516delinsTTTA	GRCh38
NC_000007.13:g.33136125_33136128delinsTTTA , CM000669.1:g.33136125_33136128delinsTTTA	GRCh37
NC_000007.12:g.33102650_33102653delinsTTTA	NCBI36
NG_012968.1:g.17875_17878delinsTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2417_2420delinsTAAA
ENST00000492391.2:n.1568_1571delinsTAAA
ENST00000682645.1:n.3515_3518delinsTAAA
ENST00000683432.1:c.*619_*622delinsTAAA	ENSP00000508174.1:n.*619_*622delinsTAAA
ENST00000684207.1:c.444_447delinsTAAA	ENSP00000506942.1:p.Asn148=
ENST00000297157.8:c.444_447delinsTAAA MANE Select	ENSP00000297157.3:p.Asn148=
ENST00000297157.7:c.444_447delinsTAAA	ENSP00000297157.3:p.Asn148=
ENST00000448915.1:c.342_345delinsTAAA	ENSP00000411577.1:p.Asn114=
NM_203288.1:c.444_447delinsTAAA	NP_976033.1:p.Asn148=
XM_011515468.1:c.342_345delinsTAAA	XP_011513770.1:p.Asn114=
XM_011515468.3:c.342_345delinsTAAA	XP_011513770.1:p.Asn114=
NM_203288.2:c.444_447delinsTAAA MANE Select	NP_976033.1:p.Asn148=