Canonical Allele Identifier: CA166103
Gene: BMPR1A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 141674
dbSNP Id: rs587781928

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86917284_86917285del , CM000672.2:g.86917284_86917285del GRCh38
NC_000010.10:g.88677041_88677042del , CM000672.1:g.88677041_88677042del GRCh37
NC_000010.9:g.88667021_88667022del NCBI36
NG_009362.1:g.165646_165647del , LRG_298:g.165646_165647del

Transcript Alleles

HGVS Amino-acid change
NM_004329.2:c.826_827del , LRG_298t1:c.826_827del NP_004320.2:p.Glu276AsnfsTer10
XM_011540103.1:c.826_827del XP_011538405.1:p.Glu276AsnfsTer10
XM_011540104.1:c.826_827del XP_011538406.1:p.Glu276AsnfsTer10
XM_011540103.2:c.826_827del
XM_011540104.2:c.826_827del
ENST00000372037.7:c.826_827del ENSP00000361107.1:p.Glu276AsnfsTer10