Canonical Allele Identifier: CA1925653621
Gene: BMPR1A HGNC NCBI

Linked Data

dbSNP Id: rs1847887305

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86757194_86757197del , CM000672.2:g.86757194_86757197del GRCh38
NC_000010.10:g.88516951_88516954del , CM000672.1:g.88516951_88516954del GRCh37
NC_000010.9:g.88506931_88506934del NCBI36
NG_009362.1:g.5556_5559del , LRG_298:g.5556_5559del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480152.3:c.-373+275_-373+278del ENSP00000483569.2:n.-373+275_-373+278del
ENST00000635816.2:c.-268+275_-268+278del ENSP00000489707.1:n.-268+275_-268+278del
ENST00000636056.2:c.-268+275_-268+278del ENSP00000490273.1:n.-268+275_-268+278del
ENST00000372037.8:c.-268+275_-268+278del MANE Select ENSP00000361107.2:n.-268+275_-268+278del
ENST00000638429.1:c.-268+275_-268+278del ENSP00000492290.1:n.-268+275_-268+278del
ENST00000372037.7:c.-268+275_-268+278del ENSP00000361107.1:n.-268+275_-268+278del
NM_004329.2:c.-268+275_-268+278del , LRG_298t1:c.-268+275_-268+278del NP_004320.2:n.-268+275_-268+278del
XM_011540103.1:c.-268+1231_-268+1234del XP_011538405.1:n.-268+1231_-268+1234del
XM_011540104.1:c.-373+275_-373+278del XP_011538406.1:n.-373+275_-373+278del
XM_011540103.2:c.-268+1231_-268+1234del XP_011538405.1:n.-268+1231_-268+1234del
XM_011540104.2:c.-373+275_-373+278del XP_011538406.1:n.-373+275_-373+278del
NM_004329.3:c.-268+275_-268+278del MANE Select NP_004320.2:n.-268+275_-268+278del