Canonical Allele Identifier: CA2289916357

Gene: RBBP8

Linked Data

• dbSNP Id: rs1915784886
• gnomAD v3: 18-22992786-A-AATTACCTACTCGAGTGTCATCTCCTGT
• gnomAD v4: 18-22992786-A-AATTACCTACTCGAGTGTCATCTCCTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.22992790_22992816dup , CM000680.2:g.22992790_22992816dup	GRCh38
NC_000018.9:g.20572753_20572779dup , CM000680.1:g.20572753_20572779dup	GRCh37
NC_000018.8:g.18826751_18826777dup	NCBI36
NG_012121.1:g.64459_64485dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327155.10:c.963_989dup MANE Select	ENSP00000323050.5:p.Val329_Phe330insLeuProThrArgValSerSerProV...
ENST00000327155.9:c.963_989dup	ENSP00000323050.5:p.Val329_Phe330insLeuProThrArgValSerSerProV...
ENST00000360790.9:c.963_989dup	ENSP00000354024.5:p.Val329_Phe330insLeuProThrArgValSerSerProV...
ENST00000399721.6:c.963_989dup	ENSP00000382627.2:p.Val329_Phe330insLeuProThrArgValSerSerProV...
ENST00000399722.6:c.963_989dup	ENSP00000382628.2:p.Val329_Phe330insLeuProThrArgValSerSerProV...
ENST00000399725.6:c.963_989dup	ENSP00000382630.2:p.Val329_Phe330insLeuProThrArgValSerSerProV...
NM_002894.2:c.963_989dup	NP_002885.1:p.Val329_Phe330insLeuProThrArgValSerSerProVal
NM_203291.1:c.963_989dup	NP_976036.1:p.Val329_Phe330insLeuProThrArgValSerSerProVal
NM_203292.1:c.963_989dup	NP_976037.1:p.Val329_Phe330insLeuProThrArgValSerSerProVal
XM_005258325.1:c.963_989dup	XP_005258382.1:p.Val329_Phe330insLeuProThrArgValSerSerProVal
XM_005258326.2:c.141_167dup	XP_005258383.1:p.Val55_Phe56insLeuProThrArgValSerSerProVal
XM_006722519.1:c.963_989dup	XP_006722582.1:p.Val329_Phe330insLeuProThrArgValSerSerProVal
XM_006722520.1:c.963_989dup	XP_006722583.1:p.Val329_Phe330insLeuProThrArgValSerSerProVal
XM_006722521.1:c.963_989dup	XP_006722584.1:p.Val329_Phe330insLeuProThrArgValSerSerProVal
XM_011526132.1:c.963_989dup	XP_011524434.1:p.Val329_Phe330insLeuProThrArgValSerSerProVal
XM_005258325.3:c.963_989dup	XP_005258382.1:p.Val329_Phe330insLeuProThrArgValSerSerProVal
XM_005258326.4:c.141_167dup	XP_005258383.1:p.Val55_Phe56insLeuProThrArgValSerSerProVal
XM_006722519.2:c.963_989dup	XP_006722582.1:p.Val329_Phe330insLeuProThrArgValSerSerProVal
XM_006722520.2:c.963_989dup	XP_006722583.1:p.Val329_Phe330insLeuProThrArgValSerSerProVal
XM_006722521.2:c.963_989dup	XP_006722584.1:p.Val329_Phe330insLeuProThrArgValSerSerProVal
XM_011526132.2:c.963_989dup	XP_011524434.1:p.Val329_Phe330insLeuProThrArgValSerSerProVal
XM_017025916.1:c.141_167dup	XP_016881405.1:p.Val55_Phe56insLeuProThrArgValSerSerProVal
XM_024451233.1:c.669_695dup	XP_024307001.1:p.Val231_Phe232insLeuProThrArgValSerSerProVal
NM_002894.3:c.963_989dup MANE Select	NP_002885.1:p.Val329_Phe330insLeuProThrArgValSerSerProVal
NM_203291.2:c.963_989dup	NP_976036.1:p.Val329_Phe330insLeuProThrArgValSerSerProVal
NM_203292.2:c.963_989dup	NP_976037.1:p.Val329_Phe330insLeuProThrArgValSerSerProVal