Canonical Allele Identifier: CA190154
Gene: BMPR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 184822
ClinVar RCV Id: RCV000164147
dbSNP Id: rs786201715

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86899880del , CM000672.2:g.86899880del GRCh38
NC_000010.10:g.88659637del , CM000672.1:g.88659637del GRCh37
NC_000010.9:g.88649617del NCBI36
NG_009362.1:g.148242del , LRG_298:g.148242del

Transcript Alleles

HGVS Amino-acid change
ENST00000480152.3:c.420del ENSP00000483569.2:p.Val141LeufsTer3
ENST00000635816.2:c.420del ENSP00000489707.1:p.Val141LeufsTer3
ENST00000636056.2:c.420del ENSP00000490273.1:p.Val141LeufsTer3
ENST00000372037.8:c.420del MANE Select ENSP00000361107.2:p.Val141LeufsTer3
ENST00000635816.1:c.420del ENSP00000489707.1:p.Val141LeufsTer3
ENST00000636056.1:c.420del ENSP00000490273.1:p.Val141LeufsTer3
ENST00000638429.1:c.420del ENSP00000492290.1:p.Val141LeufsTer3
ENST00000372037.7:c.420del ENSP00000361107.1:p.Val141LeufsTer3
NM_004329.2:c.420del , LRG_298t1:c.420del NP_004320.2:p.Val141LeufsTer3
XM_011540103.1:c.420del XP_011538405.1:p.Val141LeufsTer3
XM_011540104.1:c.420del XP_011538406.1:p.Val141LeufsTer3
XM_011540103.2:c.420del XP_011538405.1:p.Val141LeufsTer3
XM_011540104.2:c.420del XP_011538406.1:p.Val141LeufsTer3
NM_004329.3:c.420del MANE Select NP_004320.2:p.Val141LeufsTer3