Canonical Allele Identifier: CA1925714681
Gene: BMPR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86899831_86899832delinsGT , CM000672.2:g.86899831_86899832delinsGT GRCh38
NC_000010.10:g.88659588_88659589delinsGT , CM000672.1:g.88659588_88659589delinsGT GRCh37
NC_000010.9:g.88649568_88649569delinsGT NCBI36
NG_009362.1:g.148193_148194delinsGT , LRG_298:g.148193_148194delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000480152.3:c.371_372delinsGT ENSP00000483569.2:p.Cys124=
ENST00000635816.2:c.371_372delinsGT ENSP00000489707.1:p.Cys124=
ENST00000636056.2:c.371_372delinsGT ENSP00000490273.1:p.Cys124=
ENST00000372037.8:c.371_372delinsGT MANE Select ENSP00000361107.2:p.Cys124=
ENST00000635816.1:c.371_372delinsGT ENSP00000489707.1:p.Cys124=
ENST00000636056.1:c.371_372delinsGT ENSP00000490273.1:p.Cys124=
ENST00000638429.1:c.371_372delinsGT ENSP00000492290.1:p.Cys124=
ENST00000372037.7:c.371_372delinsGT ENSP00000361107.1:p.Cys124=
NM_004329.2:c.371_372delinsGT , LRG_298t1:c.371_372delinsGT NP_004320.2:p.Cys124=
XM_011540103.1:c.371_372delinsGT XP_011538405.1:p.Cys124=
XM_011540104.1:c.371_372delinsGT XP_011538406.1:p.Cys124=
XM_011540103.2:c.371_372delinsGT XP_011538405.1:p.Cys124=
XM_011540104.2:c.371_372delinsGT XP_011538406.1:p.Cys124=
NM_004329.3:c.371_372delinsGT MANE Select NP_004320.2:p.Cys124=