Canonical Allele Identifier: CA2682311874

Gene: RP9

Linked Data

• gnomAD v4: 7-33096533-C-CTTCTGCTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096533_33096534insTTCTGCTTG , CM000669.2:g.33096533_33096534insTTCTGCTTG	GRCh38
NC_000007.13:g.33136145_33136146insTTCTGCTTG , CM000669.1:g.33136145_33136146insTTCTGCTTG	GRCh37
NC_000007.12:g.33102670_33102671insTTCTGCTTG	NCBI36
NG_012968.1:g.17857_17858insCAAGCAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2399_2400insCAAGCAGAA
ENST00000492391.2:n.1550_1551insCAAGCAGAA
ENST00000682645.1:n.3497_3498insCAAGCAGAA
ENST00000683432.1:c.*601_*602insCAAGCAGAA	ENSP00000508174.1:n.*601_*602insCAAGCAGAA
ENST00000684207.1:c.426_427insCAAGCAGAA	ENSP00000506942.1:p.Tyr142_Asp143insGlnAlaGlu
ENST00000297157.8:c.426_427insCAAGCAGAA MANE Select	ENSP00000297157.3:p.Tyr142_Asp143insGlnAlaGlu
ENST00000297157.7:c.426_427insCAAGCAGAA	ENSP00000297157.3:p.Tyr142_Asp143insGlnAlaGlu
ENST00000448915.1:c.324_325insCAAGCAGAA	ENSP00000411577.1:p.Tyr108_Asp109insGlnAlaGlu
NM_203288.1:c.426_427insCAAGCAGAA	NP_976033.1:p.Tyr142_Asp143insGlnAlaGlu
XM_011515468.1:c.324_325insCAAGCAGAA	XP_011513770.1:p.Tyr108_Asp109insGlnAlaGlu
XM_011515468.3:c.324_325insCAAGCAGAA	XP_011513770.1:p.Tyr108_Asp109insGlnAlaGlu
NM_203288.2:c.426_427insCAAGCAGAA MANE Select	NP_976033.1:p.Tyr142_Asp143insGlnAlaGlu