Canonical Allele Identifier: CA2609024846

Gene: RBP3

Linked Data

• gnomAD v4: 10-47350246-AGCCTCGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47350249_47350255del , CM000672.2:g.47350249_47350255del	GRCh38
NC_000010.10:g.48389109_48389115del , CM000672.1:g.48389109_48389115del	GRCh37
NC_000010.9:g.48009115_48009121del	NCBI36
NG_029718.1:g.6879_6885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.1765_1771del MANE Select	ENSP00000463151.1:p.Leu589SerfsTer?
ENST00000584701.1:c.1765_1771del	ENSP00000463151.1:p.Leu589SerfsTer?
NM_002900.2:c.1765_1771del	NP_002891.1:p.Leu589SerfsTer?
NM_002900.3:c.1765_1771del MANE Select	NP_002891.1:p.Leu589SerfsTer?