Canonical Allele Identifier: CA2574540257
Gene: RBP3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350520_47350525dup , CM000672.2:g.47350520_47350525dup GRCh38
NC_000010.10:g.48388838_48388843dup , CM000672.1:g.48388838_48388843dup GRCh37
NC_000010.9:g.48008844_48008849dup NCBI36
NG_029718.1:g.7150_7155dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.2036_2041dup MANE Select ENSP00000463151.1:p.Glu680_Ser681insLeuGlu
ENST00000584701.1:c.2036_2041dup ENSP00000463151.1:p.Glu680_Ser681insLeuGlu
NM_002900.2:c.2036_2041dup NP_002891.1:p.Glu680_Ser681insLeuGlu
NM_002900.3:c.2036_2041dup MANE Select NP_002891.1:p.Glu680_Ser681insLeuGlu