Canonical Allele Identifier: CA2499220420

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 1075769
• ClinVar RCV Id: RCV000008720 ; RCV001389462 ; RCV002377580
• dbSNP Id: rs2133395056

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86890121_86890131del , CM000672.2:g.86890121_86890131del	GRCh38
NC_000010.10:g.88649878_88649888del , CM000672.1:g.88649878_88649888del	GRCh37
NC_000010.9:g.88639858_88639868del	NCBI36
NG_009362.1:g.138483_138493del , LRG_298:g.138483_138493del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.127_137del	ENSP00000483569.2:p.Lys43TrpfsTer24
ENST00000635816.2:c.127_137del	ENSP00000489707.1:p.Lys43TrpfsTer24
ENST00000636056.2:c.127_137del	ENSP00000490273.1:p.Lys43TrpfsTer24
ENST00000372037.8:c.127_137del MANE Select	ENSP00000361107.2:p.Lys43TrpfsTer24
ENST00000635816.1:c.127_137del	ENSP00000489707.1:p.Lys43TrpfsTer24
ENST00000636056.1:c.127_137del	ENSP00000490273.1:p.Lys43TrpfsTer24
ENST00000638429.1:c.127_137del	ENSP00000492290.1:p.Lys43TrpfsTer24
ENST00000372037.7:c.127_137del	ENSP00000361107.1:p.Lys43TrpfsTer24
NM_004329.2:c.127_137del , LRG_298t1:c.127_137del	NP_004320.2:p.Lys43TrpfsTer24
XM_011540103.1:c.127_137del	XP_011538405.1:p.Lys43TrpfsTer24
XM_011540104.1:c.127_137del	XP_011538406.1:p.Lys43TrpfsTer24
XM_011540103.2:c.127_137del	XP_011538405.1:p.Lys43TrpfsTer24
XM_011540104.2:c.127_137del	XP_011538406.1:p.Lys43TrpfsTer24
NM_004329.3:c.127_137del MANE Select	NP_004320.2:p.Lys43TrpfsTer24