Canonical Allele Identifier: CA2630242579

Gene: RLBP1

Linked Data

• gnomAD v4: 15-89211811-C-CTG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211811_89211812insTG , CM000677.2:g.89211811_89211812insTG	GRCh38
NC_000015.9:g.89755042_89755043insTG , CM000677.1:g.89755042_89755043insTG	GRCh37
NC_000015.8:g.87556046_87556047insTG	NCBI36
NG_008116.1:g.14880_14881insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.615_616insCA MANE Select	ENSP00000268125.5:p.Gly206GlnfsTer?
ENST00000268125.9:c.615_616insCA	ENSP00000268125.5:p.Gly206GlnfsTer?
ENST00000563254.1:c.32_33insCA
ENST00000567787.1:c.*193_*194insCA	ENSP00000457251.1:n.*193_*194insCA
NM_000326.4:c.615_616insCA	NP_000317.1:p.Gly206GlnfsTer?
XM_011521870.1:c.615_616insCA	XP_011520172.1:p.Gly206GlnfsTer?
XM_011521871.1:c.540_541insCA	XP_011520173.1:p.Gly181GlnfsTer?
XM_011521872.1:c.540_541insCA	XP_011520174.1:p.Gly181GlnfsTer?
XM_011521870.2:c.615_616insCA	XP_011520172.1:p.Gly206GlnfsTer?
XM_017022460.1:c.642_643insCA	XP_016877949.1:p.Gly215GlnfsTer?
NM_000326.5:c.615_616insCA MANE Select	NP_000317.1:p.Gly206GlnfsTer?