Canonical Allele Identifier: CA2630242578

Gene: RLBP1

Linked Data

• gnomAD v4: 15-89211788-AGCAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211789_89211792del , CM000677.2:g.89211789_89211792del	GRCh38
NC_000015.9:g.89755020_89755023del , CM000677.1:g.89755020_89755023del	GRCh37
NC_000015.8:g.87556024_87556027del	NCBI36
NG_008116.1:g.14900_14903del

Transcript Alleles

HGVS	Amino-acid change
ENST00000268125.10:c.635_638del MANE Select	ENSP00000268125.5:p.Ala212ValfsTer?
ENST00000268125.9:c.635_638del	ENSP00000268125.5:p.Ala212ValfsTer?
ENST00000563254.1:c.52_55del
ENST00000567787.1:c.*213_*216del	ENSP00000457251.1:n.*213_*216del
NM_000326.4:c.635_638del	NP_000317.1:p.Ala212ValfsTer?
XM_011521870.1:c.635_638del	XP_011520172.1:p.Ala212ValfsTer?
XM_011521871.1:c.560_563del	XP_011520173.1:p.Ala187ValfsTer?
XM_011521872.1:c.560_563del	XP_011520174.1:p.Ala187ValfsTer?
XM_011521870.2:c.635_638del	XP_011520172.1:p.Ala212ValfsTer?
XM_017022460.1:c.662_665del	XP_016877949.1:p.Ala221ValfsTer?
NM_000326.5:c.635_638del MANE Select	NP_000317.1:p.Ala212ValfsTer?