Canonical Allele Identifier: CA10578889
Gene: BMPR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 232787
ClinVar RCV Id: RCV000222176
dbSNP Id: rs876659988

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86919187delinsGTTCATAGCGG , CM000672.2:g.86919187delinsGTTCATAGCGG GRCh38
NC_000010.10:g.88678944delinsGTTCATAGCGG , CM000672.1:g.88678944delinsGTTCATAGCGG GRCh37
NC_000010.9:g.88668924delinsGTTCATAGCGG NCBI36
NG_009362.1:g.167549delinsGTTCATAGCGG , LRG_298:g.167549delinsGTTCATAGCGG

Transcript Alleles

HGVS Amino-acid change
ENST00000480152.3:c.884delinsGTTCATAGCGG ENSP00000483569.2:p.Asp295GlyfsTer3
ENST00000635816.2:c.884delinsGTTCATAGCGG ENSP00000489707.1:p.Asp295GlyfsTer3
ENST00000636056.2:c.884delinsGTTCATAGCGG ENSP00000490273.1:p.Asp295GlyfsTer3
ENST00000372037.8:c.884delinsGTTCATAGCGG MANE Select ENSP00000361107.2:p.Asp295GlyfsTer3
ENST00000635816.1:c.884delinsGTTCATAGCGG ENSP00000489707.1:p.Asp295GlyfsTer3
ENST00000636056.1:c.884delinsGTTCATAGCGG ENSP00000490273.1:p.Asp295GlyfsTer3
ENST00000638429.1:c.884delinsGTTCATAGCGG ENSP00000492290.1:p.Asp295GlyfsTer3
ENST00000372037.7:c.884delinsGTTCATAGCGG ENSP00000361107.1:p.Asp295GlyfsTer3
NM_004329.2:c.884delinsGTTCATAGCGG , LRG_298t1:c.884delinsGTTCATAGCGG NP_004320.2:p.Asp295GlyfsTer3
XM_011540103.1:c.884delinsGTTCATAGCGG XP_011538405.1:p.Asp295GlyfsTer3
XM_011540104.1:c.884delinsGTTCATAGCGG XP_011538406.1:p.Asp295GlyfsTer3
XM_011540103.2:c.884delinsGTTCATAGCGG XP_011538405.1:p.Asp295GlyfsTer3
XM_011540104.2:c.884delinsGTTCATAGCGG XP_011538406.1:p.Asp295GlyfsTer3
NM_004329.3:c.884delinsGTTCATAGCGG MANE Select NP_004320.2:p.Asp295GlyfsTer3