Canonical Allele Identifier: CA7722319

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 283817
• ClinVar RCV Id: RCV000267528 ; RCV000306563 ; RCV000320481 ; RCV000377460 ; RCV000958695
• dbSNP Id: rs56307321
• ExAC: 15:89760342 TGGCCTC / T
• gnomAD v2: 15-89760342-TGGCCTC-T
• gnomAD v3: 15-89217111-TGGCCTC-T
• gnomAD v4: 15-89217111-TGGCCTC-T
• MyVariant Identifiers: chr15:g.89760343_89760348del (hg19) ; chr15:g.89217112_89217117del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89217112_89217117del , CM000677.2:g.89217112_89217117del	GRCh38
NC_000015.9:g.89760343_89760348del , CM000677.1:g.89760343_89760348del	GRCh37
NC_000015.8:g.87561347_87561352del	NCBI36
NG_008116.1:g.9575_9580del

Transcript Alleles

HGVS	Amino-acid change
ENST00000268125.10:c.346+3_346+8del MANE Select	ENSP00000268125.5:n.346+3_346+8del
ENST00000268125.9:c.346+3_346+8del	ENSP00000268125.5:n.346+3_346+8del
ENST00000567787.1:c.183+166_183+171del	ENSP00000457251.1:n.183+166_183+171del
NM_000326.4:c.346+3_346+8del	NP_000317.1:n.346+3_346+8del
XM_011521870.1:c.346+3_346+8del	XP_011520172.1:n.346+3_346+8del
XM_011521871.1:c.271+3_271+8del	XP_011520173.1:n.271+3_271+8del
XM_011521872.1:c.271+3_271+8del	XP_011520174.1:n.271+3_271+8del
XM_011521870.2:c.346+3_346+8del	XP_011520172.1:n.346+3_346+8del
XM_017022460.1:c.373+3_373+8del	XP_016877949.1:n.373+3_373+8del
NM_000326.5:c.346+3_346+8del MANE Select	NP_000317.1:n.346+3_346+8del