Canonical Allele Identifier: CA2575831876
Gene: RLBP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89211700_89211701insA , CM000677.2:g.89211700_89211701insA GRCh38
NC_000015.9:g.89754931_89754932insA , CM000677.1:g.89754931_89754932insA GRCh37
NC_000015.8:g.87555935_87555936insA NCBI36
NG_008116.1:g.14991_14992insT

Transcript Alleles

HGVS Amino-acid change
ENST00000268125.10:c.684+42_684+43insT MANE Select ENSP00000268125.5:n.684+42_684+43insT
ENST00000268125.9:c.684+42_684+43insT ENSP00000268125.5:n.684+42_684+43insT
ENST00000563254.1:c.101+42_101+43insT
ENST00000567787.1:c.*262+42_*262+43insT ENSP00000457251.1:n.*262+42_*262+43insT
NM_000326.4:c.684+42_684+43insT NP_000317.1:n.684+42_684+43insT
XM_011521870.1:c.684+42_684+43insT XP_011520172.1:n.684+42_684+43insT
XM_011521871.1:c.609+42_609+43insT XP_011520173.1:n.609+42_609+43insT
XM_011521872.1:c.609+42_609+43insT XP_011520174.1:n.609+42_609+43insT
XM_011521870.2:c.684+42_684+43insT XP_011520172.1:n.684+42_684+43insT
XM_017022460.1:c.711+42_711+43insT XP_016877949.1:n.711+42_711+43insT
NM_000326.5:c.684+42_684+43insT MANE Select NP_000317.1:n.684+42_684+43insT