Canonical Allele Identifier: CA2194510241

Gene: RLBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211788_89211796delinsAGCAGCCTG , CM000677.2:g.89211788_89211796delinsAGCAGCCTG	GRCh38
NC_000015.9:g.89755019_89755027delinsAGCAGCCTG , CM000677.1:g.89755019_89755027delinsAGCAGCCTG	GRCh37
NC_000015.8:g.87556023_87556031delinsAGCAGCCTG	NCBI36
NG_008116.1:g.14896_14904delinsCAGGCTGCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000268125.10:c.631_639delinsCAGGCTGCT MANE Select	ENSP00000268125.5:p.Gln211=
ENST00000268125.9:c.631_639delinsCAGGCTGCT	ENSP00000268125.5:p.Gln211=
ENST00000563254.1:c.48_56delinsCAGGCTGCT
ENST00000567787.1:c.*209_*217delinsCAGGCTGCT	ENSP00000457251.1:n.*209_*217delinsCAGGCTGCT
NM_000326.4:c.631_639delinsCAGGCTGCT	NP_000317.1:p.Gln211=
XM_011521870.1:c.631_639delinsCAGGCTGCT	XP_011520172.1:p.Gln211=
XM_011521871.1:c.556_564delinsCAGGCTGCT	XP_011520173.1:p.Gln186=
XM_011521872.1:c.556_564delinsCAGGCTGCT	XP_011520174.1:p.Gln186=
XM_011521870.2:c.631_639delinsCAGGCTGCT	XP_011520172.1:p.Gln211=
XM_017022460.1:c.658_666delinsCAGGCTGCT	XP_016877949.1:p.Gln220=
NM_000326.5:c.631_639delinsCAGGCTGCT MANE Select	NP_000317.1:p.Gln211=