Canonical Allele Identifier: CA1925653528
Gene: BMPR1A HGNC NCBI

Linked Data

dbSNP Id: rs1847885528

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86757137_86757138del , CM000672.2:g.86757137_86757138del GRCh38
NC_000010.10:g.88516894_88516895del , CM000672.1:g.88516894_88516895del GRCh37
NC_000010.9:g.88506874_88506875del NCBI36
NG_009362.1:g.5499_5500del , LRG_298:g.5499_5500del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480152.3:c.-373+218_-373+219del ENSP00000483569.2:n.-373+218_-373+219del
ENST00000635816.2:c.-268+218_-268+219del ENSP00000489707.1:n.-268+218_-268+219del
ENST00000636056.2:c.-268+218_-268+219del ENSP00000490273.1:n.-268+218_-268+219del
ENST00000372037.8:c.-268+218_-268+219del MANE Select ENSP00000361107.2:n.-268+218_-268+219del
ENST00000638429.1:c.-268+218_-268+219del ENSP00000492290.1:n.-268+218_-268+219del
ENST00000372037.7:c.-268+218_-268+219del ENSP00000361107.1:n.-268+218_-268+219del
NM_004329.2:c.-268+218_-268+219del , LRG_298t1:c.-268+218_-268+219del NP_004320.2:n.-268+218_-268+219del
XM_011540103.1:c.-268+1174_-268+1175del XP_011538405.1:n.-268+1174_-268+1175del
XM_011540104.1:c.-373+218_-373+219del XP_011538406.1:n.-373+218_-373+219del
XM_011540103.2:c.-268+1174_-268+1175del XP_011538405.1:n.-268+1174_-268+1175del
XM_011540104.2:c.-373+218_-373+219del XP_011538406.1:n.-373+218_-373+219del
NM_004329.3:c.-268+218_-268+219del MANE Select NP_004320.2:n.-268+218_-268+219del