Canonical Allele Identifier: CA1925714696
Gene: BMPR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86899833_86899834delinsTG , CM000672.2:g.86899833_86899834delinsTG GRCh38
NC_000010.10:g.88659590_88659591delinsTG , CM000672.1:g.88659590_88659591delinsTG GRCh37
NC_000010.9:g.88649570_88649571delinsTG NCBI36
NG_009362.1:g.148195_148196delinsTG , LRG_298:g.148195_148196delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000480152.3:c.373_374delinsTG ENSP00000483569.2:p.Cys125=
ENST00000635816.2:c.373_374delinsTG ENSP00000489707.1:p.Cys125=
ENST00000636056.2:c.373_374delinsTG ENSP00000490273.1:p.Cys125=
ENST00000372037.8:c.373_374delinsTG MANE Select ENSP00000361107.2:p.Cys125=
ENST00000635816.1:c.373_374delinsTG ENSP00000489707.1:p.Cys125=
ENST00000636056.1:c.373_374delinsTG ENSP00000490273.1:p.Cys125=
ENST00000638429.1:c.373_374delinsTG ENSP00000492290.1:p.Cys125=
ENST00000372037.7:c.373_374delinsTG ENSP00000361107.1:p.Cys125=
NM_004329.2:c.373_374delinsTG , LRG_298t1:c.373_374delinsTG NP_004320.2:p.Cys125=
XM_011540103.1:c.373_374delinsTG XP_011538405.1:p.Cys125=
XM_011540104.1:c.373_374delinsTG XP_011538406.1:p.Cys125=
XM_011540103.2:c.373_374delinsTG XP_011538405.1:p.Cys125=
XM_011540104.2:c.373_374delinsTG XP_011538406.1:p.Cys125=
NM_004329.3:c.373_374delinsTG MANE Select NP_004320.2:p.Cys125=