Canonical Allele Identifier: CA2630242582

Gene: RLBP1

Linked Data

• gnomAD v4: 15-89211815-G-GGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211815_89211816insGTA , CM000677.2:g.89211815_89211816insGTA	GRCh38
NC_000015.9:g.89755046_89755047insGTA , CM000677.1:g.89755046_89755047insGTA	GRCh37
NC_000015.8:g.87556050_87556051insGTA	NCBI36
NG_008116.1:g.14876_14877insTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.611_612insTAC MANE Select	ENSP00000268125.5:p.Phe204_Lys205insThr
ENST00000268125.9:c.611_612insTAC	ENSP00000268125.5:p.Phe204_Lys205insThr
ENST00000563254.1:c.28_29insTAC
ENST00000567787.1:c.*189_*190insTAC	ENSP00000457251.1:n.*189_*190insTAC
NM_000326.4:c.611_612insTAC	NP_000317.1:p.Phe204_Lys205insThr
XM_011521870.1:c.611_612insTAC	XP_011520172.1:p.Phe204_Lys205insThr
XM_011521871.1:c.536_537insTAC	XP_011520173.1:p.Phe179_Lys180insThr
XM_011521872.1:c.536_537insTAC	XP_011520174.1:p.Phe179_Lys180insThr
XM_011521870.2:c.611_612insTAC	XP_011520172.1:p.Phe204_Lys205insThr
XM_017022460.1:c.638_639insTAC	XP_016877949.1:p.Phe213_Lys214insThr
NM_000326.5:c.611_612insTAC MANE Select	NP_000317.1:p.Phe204_Lys205insThr