Canonical Allele Identifier: CA1925706133
Gene: BMPR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86890164_86890165delinsCT , CM000672.2:g.86890164_86890165delinsCT GRCh38
NC_000010.10:g.88649921_88649922delinsCT , CM000672.1:g.88649921_88649922delinsCT GRCh37
NC_000010.9:g.88639901_88639902delinsCT NCBI36
NG_009362.1:g.138526_138527delinsCT , LRG_298:g.138526_138527delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000480152.3:c.170_171delinsCT ENSP00000483569.2:p.Pro57=
ENST00000635816.2:c.170_171delinsCT ENSP00000489707.1:p.Pro57=
ENST00000636056.2:c.170_171delinsCT ENSP00000490273.1:p.Pro57=
ENST00000372037.8:c.170_171delinsCT MANE Select ENSP00000361107.2:p.Pro57=
ENST00000635816.1:c.170_171delinsCT ENSP00000489707.1:p.Pro57=
ENST00000636056.1:c.170_171delinsCT ENSP00000490273.1:p.Pro57=
ENST00000638429.1:c.170_171delinsCT ENSP00000492290.1:p.Pro57=
ENST00000372037.7:c.170_171delinsCT ENSP00000361107.1:p.Pro57=
NM_004329.2:c.170_171delinsCT , LRG_298t1:c.170_171delinsCT NP_004320.2:p.Pro57=
XM_011540103.1:c.170_171delinsCT XP_011538405.1:p.Pro57=
XM_011540104.1:c.170_171delinsCT XP_011538406.1:p.Pro57=
XM_011540103.2:c.170_171delinsCT XP_011538405.1:p.Pro57=
XM_011540104.2:c.170_171delinsCT XP_011538406.1:p.Pro57=
NM_004329.3:c.170_171delinsCT MANE Select NP_004320.2:p.Pro57=