Canonical Allele Identifier: CA2578864365

Gene: RP9

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096496del , CM000669.2:g.33096496del	GRCh38
NC_000007.13:g.33136108del , CM000669.1:g.33136108del	GRCh37
NC_000007.12:g.33102633del	NCBI36
NG_012968.1:g.17895del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2437del
ENST00000492391.2:n.1588del
ENST00000682645.1:n.3535del
ENST00000683432.1:c.*639del	ENSP00000508174.1:n.*639del
ENST00000684207.1:c.464del	ENSP00000506942.1:p.Val155GlufsTer13
ENST00000297157.8:c.464del MANE Select	ENSP00000297157.3:p.Val155GlufsTer6
ENST00000297157.7:c.464del	ENSP00000297157.3:p.Val155GlufsTer6
ENST00000448915.1:c.362del	ENSP00000411577.1:p.Val121GlufsTer6
NM_203288.1:c.464del	NP_976033.1:p.Val155GlufsTer6
XM_011515468.1:c.362del	XP_011513770.1:p.Val121GlufsTer6
XM_011515468.3:c.362del	XP_011513770.1:p.Val121GlufsTer6
NM_203288.2:c.464del MANE Select	NP_976033.1:p.Val155GlufsTer6