Canonical Allele Identifier: CA2630242547
Gene: RLBP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89211702_89211703del , CM000677.2:g.89211702_89211703del GRCh38
NC_000015.9:g.89754933_89754934del , CM000677.1:g.89754933_89754934del GRCh37
NC_000015.8:g.87555937_87555938del NCBI36
NG_008116.1:g.14989_14990del

Transcript Alleles

HGVS Amino-acid Change
ENST00000268125.10:c.684+40_684+41del MANE Select ENSP00000268125.5:n.684+40_684+41del
ENST00000268125.9:c.684+40_684+41del ENSP00000268125.5:n.684+40_684+41del
ENST00000563254.1:c.101+40_101+41del
ENST00000567787.1:c.*262+40_*262+41del ENSP00000457251.1:n.*262+40_*262+41del
NM_000326.4:c.684+40_684+41del NP_000317.1:n.684+40_684+41del
XM_011521870.1:c.684+40_684+41del XP_011520172.1:n.684+40_684+41del
XM_011521871.1:c.609+40_609+41del XP_011520173.1:n.609+40_609+41del
XM_011521872.1:c.609+40_609+41del XP_011520174.1:n.609+40_609+41del
XM_011521870.2:c.684+40_684+41del XP_011520172.1:n.684+40_684+41del
XM_017022460.1:c.711+40_711+41del XP_016877949.1:n.711+40_711+41del
NM_000326.5:c.684+40_684+41del MANE Select NP_000317.1:n.684+40_684+41del