Canonical Allele Identifier: CA2630241077

Gene: RLBP1

Linked Data

• gnomAD v4: 15-89210104-CCCCCTCCTTTATTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89210108_89210121del , CM000677.2:g.89210108_89210121del	GRCh38
NC_000015.9:g.89753339_89753352del , CM000677.1:g.89753339_89753352del	GRCh37
NC_000015.8:g.87554343_87554356del	NCBI36
NG_008116.1:g.16574_16587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.*167_*180del MANE Select	ENSP00000268125.5:n.*167_*180del
ENST00000268125.9:c.*167_*180del	ENSP00000268125.5:n.*167_*180del
ENST00000563254.1:c.493_506del
NM_000326.4:c.*167_*180del	NP_000317.1:n.*167_*180del
XM_011521870.1:c.*167_*180del	XP_011520172.1:n.*167_*180del
XM_011521871.1:c.*167_*180del	XP_011520173.1:n.*167_*180del
XM_011521872.1:c.*167_*180del	XP_011520174.1:n.*167_*180del
XM_011521870.2:c.*167_*180del	XP_011520172.1:n.*167_*180del
XM_017022460.1:c.*167_*180del	XP_016877949.1:n.*167_*180del
NM_000326.5:c.*167_*180del MANE Select	NP_000317.1:n.*167_*180del