Canonical Allele Identifier: CA1925707828
Gene: BMPR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86892220_86892221delinsTC , CM000672.2:g.86892220_86892221delinsTC GRCh38
NC_000010.10:g.88651977_88651978delinsTC , CM000672.1:g.88651977_88651978delinsTC GRCh37
NC_000010.9:g.88641957_88641958delinsTC NCBI36
NG_009362.1:g.140582_140583delinsTC , LRG_298:g.140582_140583delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000480152.3:c.324_325delinsTC ENSP00000483569.2:p.Phe108=
ENST00000635816.2:c.324_325delinsTC ENSP00000489707.1:p.Phe108=
ENST00000636056.2:c.324_325delinsTC ENSP00000490273.1:p.Phe108=
ENST00000372037.8:c.324_325delinsTC MANE Select ENSP00000361107.2:p.Phe108=
ENST00000635816.1:c.324_325delinsTC ENSP00000489707.1:p.Phe108=
ENST00000636056.1:c.324_325delinsTC ENSP00000490273.1:p.Phe108=
ENST00000638429.1:c.324_325delinsTC ENSP00000492290.1:p.Phe108=
ENST00000372037.7:c.324_325delinsTC ENSP00000361107.1:p.Phe108=
NM_004329.2:c.324_325delinsTC , LRG_298t1:c.324_325delinsTC NP_004320.2:p.Phe108=
XM_011540103.1:c.324_325delinsTC XP_011538405.1:p.Phe108=
XM_011540104.1:c.324_325delinsTC XP_011538406.1:p.Phe108=
XM_011540103.2:c.324_325delinsTC XP_011538405.1:p.Phe108=
XM_011540104.2:c.324_325delinsTC XP_011538406.1:p.Phe108=
NM_004329.3:c.324_325delinsTC MANE Select NP_004320.2:p.Phe108=