Canonical Allele Identifier: CA2831658762
Gene: BMPR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86757312_86757313del , CM000672.2:g.86757312_86757313del GRCh38
NC_000010.10:g.88517069_88517070del , CM000672.1:g.88517069_88517070del GRCh37
NC_000010.9:g.88507049_88507050del NCBI36
NG_009362.1:g.5674_5675del , LRG_298:g.5674_5675del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480152.3:c.-373+393_-373+394del ENSP00000483569.2:n.-373+393_-373+394del
ENST00000635816.2:c.-268+393_-268+394del ENSP00000489707.1:n.-268+393_-268+394del
ENST00000636056.2:c.-268+393_-268+394del ENSP00000490273.1:n.-268+393_-268+394del
ENST00000372037.8:c.-268+393_-268+394del MANE Select ENSP00000361107.2:n.-268+393_-268+394del
ENST00000638429.1:c.-268+393_-268+394del ENSP00000492290.1:n.-268+393_-268+394del
ENST00000372037.7:c.-268+393_-268+394del ENSP00000361107.1:n.-268+393_-268+394del
NM_004329.2:c.-268+393_-268+394del , LRG_298t1:c.-268+393_-268+394del NP_004320.2:n.-268+393_-268+394del
XM_011540103.1:c.-268+1349_-268+1350del XP_011538405.1:n.-268+1349_-268+1350del
XM_011540104.1:c.-373+393_-373+394del XP_011538406.1:n.-373+393_-373+394del
XM_011540103.2:c.-268+1349_-268+1350del XP_011538405.1:n.-268+1349_-268+1350del
XM_011540104.2:c.-373+393_-373+394del XP_011538406.1:n.-373+393_-373+394del
NM_004329.3:c.-268+393_-268+394del MANE Select NP_004320.2:n.-268+393_-268+394del