Canonical Allele Identifier: CA915947364
Gene: BMPR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 653050
ClinVar RCV Id: RCV002235788
dbSNP Id: rs1589757037

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86876018_86876020del , CM000672.2:g.86876018_86876020del GRCh38
NC_000010.10:g.88635775_88635777del , CM000672.1:g.88635775_88635777del GRCh37
NC_000010.9:g.88625755_88625757del NCBI36
NG_009362.1:g.124380_124382del , LRG_298:g.124380_124382del

Transcript Alleles

HGVS Amino-acid change
ENST00000480152.3:c.-1_2del
ENST00000635816.2:c.-1_2del
ENST00000636056.2:c.-1_2del
ENST00000372037.8:c.-1_2del
ENST00000635816.1:c.-1_2del
ENST00000636056.1:c.-1_2del
ENST00000638429.1:c.-1_2del
ENST00000372037.7:c.-1_2del
ENST00000480152.2:c.-1_2del
NM_004329.2:c.-1_2del , LRG_298t1:c.-1_2del
XM_011540103.1:c.-1_2del
XM_011540104.1:c.-1_2del
XM_011540103.2:c.-1_2del
XM_011540104.2:c.-1_2del
NM_004329.3:c.-1_2del