Canonical Allele Identifier: CA270784

Gene: RBP1 COPB2-DT

Linked Data

• ClinVar Variation Id: 156390
• ClinVar RCV Id: RCV000144471 ; RCV002514775
• dbSNP Id: rs587783020
• ExAC: 3:139257660 TCAAACTCCTTCCCA / T
• gnomAD v2: 3-139257660-TCAAACTCCTTCCCA-T
• gnomAD v4: 3-139538818-TCAAACTCCTTCCCA-T
• MyVariant Identifiers: chr3:g.139257661_139257674del (hg19) ; chr3:g.139538819_139538832del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139538819_139538832del , CM000665.2:g.139538819_139538832del	GRCh38
NC_000003.11:g.139257661_139257674del , CM000665.1:g.139257661_139257674del	GRCh37
NC_000003.10:g.140740351_140740364del	NCBI36
NG_047073.1:g.5998_6011del

Transcript Alleles

HGVS	Amino-acid change
ENST00000619087.5:c.201_214del (RBP1)	ENSP00000482165.1:p.Lys69GlyfsTer7
ENST00000672186.1:c.387_400del (RBP1) MANE Select	ENSP00000500931.1:p.Lys131GlyfsTer7
ENST00000232219.6:c.387_400del (RBP1)	ENSP00000232219.2:p.Lys131GlyfsTer7
ENST00000483943.6:c.201_214del (RBP1)	ENSP00000424813.2:p.Lys69GlyfsTer7
ENST00000487424.2:c.201_214del (RBP1)	ENSP00000427492.2:p.Lys69GlyfsTer7
ENST00000492918.1:c.387_400del (RBP1)	ENSP00000429166.1:p.Lys131GlyfsTer7
ENST00000617459.4:c.387_400del (RBP1)	ENSP00000477621.1:p.Lys131GlyfsTer7
ENST00000619087.4:c.201_214del (RBP1)	ENSP00000482165.1:p.Lys69GlyfsTer7
NM_001130992.1:c.387_400del (RBP1)	NP_001124464.1:p.Lys131GlyfsTer7
NM_001130993.1:c.387_400del (RBP1)	NP_001124465.1:p.Lys131GlyfsTer7
NM_002899.3:c.387_400del (RBP1)	NP_002890.2:p.Lys131GlyfsTer7
NR_121609.1:n.355-38973_355-38960del (COPB2-DT)
NM_001130992.2:c.387_400del (RBP1)	NP_001124464.1:p.Lys131GlyfsTer7
NM_001130993.2:c.387_400del (RBP1)	NP_001124465.1:p.Lys131GlyfsTer7
NM_001365940.1:c.201_214del (RBP1)	NP_001352869.1:p.Lys69GlyfsTer7
NM_002899.4:c.387_400del (RBP1)	NP_002890.2:p.Lys131GlyfsTer7
NM_001365940.2:c.201_214del (RBP1)	NP_001352869.1:p.Lys69GlyfsTer7
NM_002899.5:c.387_400del (RBP1) MANE Select	NP_002890.2:p.Lys131GlyfsTer7
NM_001130992.3:c.387_400del (RBP1)	NP_001124464.1:p.Lys131GlyfsTer7
NM_001130993.3:c.387_400del (RBP1)	NP_001124465.1:p.Lys131GlyfsTer7