Canonical Allele Identifier: CA210020

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 191289
• ClinVar RCV Id: RCV000171480 ; RCV000197318 ; RCV001003176 ; RCV001075081 ; RCV001257813 ; RCV001814088
• dbSNP Id: rs786205626
• gnomAD v2: 15-89760399-TGAAGCGCAGGAA-T
• gnomAD v4: 15-89217168-TGAAGCGCAGGAA-T
• MyVariant Identifiers: chr15:g.89760400_89760411del (hg19) ; chr15:g.89217169_89217180del (hg38)
• PubMed: PMID:25326637

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89217174_89217185del , CM000677.2:g.89217174_89217185del	GRCh38
NC_000015.9:g.89760405_89760416del , CM000677.1:g.89760405_89760416del	GRCh37
NC_000015.8:g.87561409_87561420del	NCBI36
NG_008116.1:g.9512_9523del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.286_297del MANE Select	ENSP00000268125.5:p.Phe96_Phe99del
ENST00000268125.9:c.286_297del	ENSP00000268125.5:p.Phe96_Phe99del
ENST00000567787.1:c.183+103_183+114del	ENSP00000457251.1:n.183+103_183+114del
NM_000326.4:c.286_297del	NP_000317.1:p.Phe96_Phe99del
XM_011521870.1:c.286_297del	XP_011520172.1:p.Phe96_Phe99del
XM_011521871.1:c.211_222del	XP_011520173.1:p.Phe71_Phe74del
XM_011521872.1:c.211_222del	XP_011520174.1:p.Phe71_Phe74del
XM_011521870.2:c.286_297del	XP_011520172.1:p.Phe96_Phe99del
XM_017022460.1:c.313_324del	XP_016877949.1:p.Phe105_Phe108del
NM_000326.5:c.286_297del MANE Select	NP_000317.1:p.Phe96_Phe99del