Canonical Allele Identifier: CA1925715061
Gene: BMPR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1021164
ClinVar RCV Id: RCV001320874
dbSNP Id: rs1843285770

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86900021del , CM000672.2:g.86900021del GRCh38
NC_000010.10:g.88659778del , CM000672.1:g.88659778del GRCh37
NC_000010.9:g.88649758del NCBI36
NG_009362.1:g.148383del , LRG_298:g.148383del

Transcript Alleles

HGVS Amino-acid change
ENST00000480152.3:c.431-6del ENSP00000483569.2:n.431-6del
ENST00000635816.2:c.431-6del ENSP00000489707.1:n.431-6del
ENST00000636056.2:c.431-6del ENSP00000490273.1:n.431-6del
ENST00000372037.8:c.431-6del MANE Select ENSP00000361107.2:n.431-6del
ENST00000635816.1:c.431-6del ENSP00000489707.1:n.431-6del
ENST00000636056.1:c.431-6del ENSP00000490273.1:n.431-6del
ENST00000638429.1:c.431-6del ENSP00000492290.1:n.431-6del
ENST00000372037.7:c.431-6del ENSP00000361107.1:n.431-6del
NM_004329.2:c.431-6del , LRG_298t1:c.431-6del NP_004320.2:n.431-6del
XM_011540103.1:c.431-6del XP_011538405.1:n.431-6del
XM_011540104.1:c.431-6del XP_011538406.1:n.431-6del
XM_011540103.2:c.431-6del XP_011538405.1:n.431-6del
XM_011540104.2:c.431-6del XP_011538406.1:n.431-6del
NM_004329.3:c.431-6del MANE Select NP_004320.2:n.431-6del