Canonical Allele Identifier: CA2194510302

Gene: RLBP1

Linked Data

• dbSNP Id: rs2051540560

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211814_89211822del , CM000677.2:g.89211814_89211822del	GRCh38
NC_000015.9:g.89755045_89755053del , CM000677.1:g.89755045_89755053del	GRCh37
NC_000015.8:g.87556049_87556057del	NCBI36
NG_008116.1:g.14872_14880del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.607_615del MANE Select	ENSP00000268125.5:p.Asn203_Lys205del
ENST00000268125.9:c.607_615del	ENSP00000268125.5:p.Asn203_Lys205del
ENST00000563254.1:c.24_32del
ENST00000567787.1:c.*185_*193del	ENSP00000457251.1:n.*185_*193del
NM_000326.4:c.607_615del	NP_000317.1:p.Asn203_Lys205del
XM_011521870.1:c.607_615del	XP_011520172.1:p.Asn203_Lys205del
XM_011521871.1:c.532_540del	XP_011520173.1:p.Asn178_Lys180del
XM_011521872.1:c.532_540del	XP_011520174.1:p.Asn178_Lys180del
XM_011521870.2:c.607_615del	XP_011520172.1:p.Asn203_Lys205del
XM_017022460.1:c.634_642del	XP_016877949.1:p.Asn212_Lys214del
NM_000326.5:c.607_615del MANE Select	NP_000317.1:p.Asn203_Lys205del