Canonical Allele Identifier: CA573515775

Gene: RP9

Linked Data

• ClinVar Variation Id: 1977882
• ClinVar RCV Id: RCV002736845
• dbSNP Id: rs1158394895
• gnomAD v2: 7-33136085-TATC-T
• gnomAD v3: 7-33096473-TATC-T
• gnomAD v4: 7-33096473-TATC-T
• MyVariant Identifiers: chr7:g.33136086_33136088del (hg19) ; chr7:g.33096474_33096476del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096478_33096480del , CM000669.2:g.33096478_33096480del	GRCh38
NC_000007.13:g.33136090_33136092del , CM000669.1:g.33136090_33136092del	GRCh37
NC_000007.12:g.33102615_33102617del	NCBI36
NG_012968.1:g.17915_17917del

Transcript Alleles

HGVS	Amino-acid change
ENST00000474370.2:n.2440+17_2440+19del
ENST00000492391.2:n.1591+17_1591+19del
ENST00000682645.1:n.3538+17_3538+19del
ENST00000683432.1:c.*642+17_*642+19del	ENSP00000508174.1:n.*642+17_*642+19del
ENST00000684207.1:c.*13_*15del	ENSP00000506942.1:n.*13_*15del
ENST00000297157.8:c.467+17_467+19del MANE Select	ENSP00000297157.3:n.467+17_467+19del
ENST00000297157.7:c.467+17_467+19del	ENSP00000297157.3:n.467+17_467+19del
ENST00000448915.1:c.365+17_365+19del	ENSP00000411577.1:n.365+17_365+19del
NM_203288.1:c.467+17_467+19del	NP_976033.1:n.467+17_467+19del
XM_011515468.1:c.365+17_365+19del	XP_011513770.1:n.365+17_365+19del
XM_011515468.3:c.365+17_365+19del	XP_011513770.1:n.365+17_365+19del
NM_203288.2:c.467+17_467+19del MANE Select	NP_976033.1:n.467+17_467+19del