Canonical Allele Identifier: CA1925653607
Gene: BMPR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86757189_86757190delinsCG , CM000672.2:g.86757189_86757190delinsCG GRCh38
NC_000010.10:g.88516946_88516947delinsCG , CM000672.1:g.88516946_88516947delinsCG GRCh37
NC_000010.9:g.88506926_88506927delinsCG NCBI36
NG_009362.1:g.5551_5552delinsCG , LRG_298:g.5551_5552delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000480152.3:c.-373+270_-373+271delinsCG ENSP00000483569.2:n.-373+270_-373+271delinsCG
ENST00000635816.2:c.-268+270_-268+271delinsCG ENSP00000489707.1:n.-268+270_-268+271delinsCG
ENST00000636056.2:c.-268+270_-268+271delinsCG ENSP00000490273.1:n.-268+270_-268+271delinsCG
ENST00000372037.8:c.-268+270_-268+271delinsCG MANE Select ENSP00000361107.2:n.-268+270_-268+271delinsCG
ENST00000638429.1:c.-268+270_-268+271delinsCG ENSP00000492290.1:n.-268+270_-268+271delinsCG
ENST00000372037.7:c.-268+270_-268+271delinsCG ENSP00000361107.1:n.-268+270_-268+271delinsCG
NM_004329.2:c.-268+270_-268+271delinsCG , LRG_298t1:c.-268+270_-268+271delinsCG NP_004320.2:n.-268+270_-268+271delinsCG
XM_011540103.1:c.-268+1226_-268+1227delinsCG XP_011538405.1:n.-268+1226_-268+1227delinsCG
XM_011540104.1:c.-373+270_-373+271delinsCG XP_011538406.1:n.-373+270_-373+271delinsCG
XM_011540103.2:c.-268+1226_-268+1227delinsCG XP_011538405.1:n.-268+1226_-268+1227delinsCG
XM_011540104.2:c.-373+270_-373+271delinsCG XP_011538406.1:n.-373+270_-373+271delinsCG
NM_004329.3:c.-268+270_-268+271delinsCG MANE Select NP_004320.2:n.-268+270_-268+271delinsCG