Canonical Allele Identifier: CA2573053329

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 1339406
• ClinVar RCV Id: RCV001824002
• dbSNP Id: rs2133394844

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86890111del , CM000672.2:g.86890111del	GRCh38
NC_000010.10:g.88649868del , CM000672.1:g.88649868del	GRCh37
NC_000010.9:g.88639848del	NCBI36
NG_009362.1:g.138473del , LRG_298:g.138473del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480152.3:c.117del	ENSP00000483569.2:p.Asp40ThrfsTer9
ENST00000635816.2:c.117del	ENSP00000489707.1:p.Asp40ThrfsTer9
ENST00000636056.2:c.117del	ENSP00000490273.1:p.Asp40ThrfsTer9
ENST00000372037.8:c.117del MANE Select	ENSP00000361107.2:p.Asp40ThrfsTer9
ENST00000635816.1:c.117del	ENSP00000489707.1:p.Asp40ThrfsTer9
ENST00000636056.1:c.117del	ENSP00000490273.1:p.Asp40ThrfsTer9
ENST00000638429.1:c.117del	ENSP00000492290.1:p.Asp40ThrfsTer9
ENST00000372037.7:c.117del	ENSP00000361107.1:p.Asp40ThrfsTer9
ENST00000480152.2:c.117del	ENSP00000483569.1:p.Asp40ThrfsTer?
NM_004329.2:c.117del , LRG_298t1:c.117del	NP_004320.2:p.Asp40ThrfsTer9
XM_011540103.1:c.117del	XP_011538405.1:p.Asp40ThrfsTer9
XM_011540104.1:c.117del	XP_011538406.1:p.Asp40ThrfsTer9
XM_011540103.2:c.117del	XP_011538405.1:p.Asp40ThrfsTer9
XM_011540104.2:c.117del	XP_011538406.1:p.Asp40ThrfsTer9
NM_004329.3:c.117del MANE Select	NP_004320.2:p.Asp40ThrfsTer9