Canonical Allele Identifier: CA665797831
Gene: RBP3 HGNC NCBI

Linked Data

dbSNP Id: rs1364272213
gnomAD v3: 10-47349887-TACAGG-T
gnomAD v4: 10-47349887-TACAGG-T
MyVariant Identifiers: chr10:g.47349888_47349892del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47349891_47349895del , CM000672.2:g.47349891_47349895del GRCh38
NC_000010.10:g.48389470_48389474del , CM000672.1:g.48389470_48389474del GRCh37
NC_000010.9:g.48009476_48009480del NCBI36
NG_029718.1:g.6521_6525del

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1407_1411del MANE Select ENSP00000463151.1:p.Gln469HisfsTer30
ENST00000584701.1:c.1407_1411del ENSP00000463151.1:p.Gln469HisfsTer30
NM_002900.2:c.1407_1411del NP_002891.1:p.Gln469HisfsTer30
NM_002900.3:c.1407_1411del MANE Select NP_002891.1:p.Gln469HisfsTer30
Search 100 bp 5'
Search 100 bp 3'