Canonical Allele Identifier: CA10582748
Gene: BMPR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 239867
dbSNP Id: rs878854673

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86917229del , CM000672.2:g.86917229del GRCh38
NC_000010.10:g.88676986del , CM000672.1:g.88676986del GRCh37
NC_000010.9:g.88666966del NCBI36
NG_009362.1:g.165591del , LRG_298:g.165591del

Transcript Alleles

HGVS Amino-acid change
ENST00000480152.3:c.771del ENSP00000483569.2:p.Val258TrpfsTer3
ENST00000635816.2:c.771del ENSP00000489707.1:p.Val258TrpfsTer3
ENST00000636056.2:c.771del ENSP00000490273.1:p.Val258TrpfsTer3
ENST00000372037.8:c.771del MANE Select ENSP00000361107.2:p.Val258TrpfsTer3
ENST00000635816.1:c.771del ENSP00000489707.1:p.Val258TrpfsTer3
ENST00000636056.1:c.771del ENSP00000490273.1:p.Val258TrpfsTer3
ENST00000638429.1:c.771del ENSP00000492290.1:p.Val258TrpfsTer3
ENST00000372037.7:c.771del ENSP00000361107.1:p.Val258TrpfsTer3
NM_004329.2:c.771del , LRG_298t1:c.771del NP_004320.2:p.Val258TrpfsTer3
XM_011540103.1:c.771del XP_011538405.1:p.Val258TrpfsTer3
XM_011540104.1:c.771del XP_011538406.1:p.Val258TrpfsTer3
XM_011540103.2:c.771del XP_011538405.1:p.Val258TrpfsTer3
XM_011540104.2:c.771del XP_011538406.1:p.Val258TrpfsTer3
NM_004329.3:c.771del MANE Select NP_004320.2:p.Val258TrpfsTer3