Canonical Allele Identifier: CA2582342706

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 2584193
• ClinVar RCV Id: RCV003335641

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86892158del , CM000672.2:g.86892158del	GRCh38
NC_000010.10:g.88651915del , CM000672.1:g.88651915del	GRCh37
NC_000010.9:g.88641895del	NCBI36
NG_009362.1:g.140520del , LRG_298:g.140520del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.262del	ENSP00000483569.2:p.Glu88LysfsTer9
ENST00000635816.2:c.262del	ENSP00000489707.1:p.Glu88LysfsTer9
ENST00000636056.2:c.262del	ENSP00000490273.1:p.Glu88LysfsTer9
ENST00000372037.8:c.262del MANE Select	ENSP00000361107.2:p.Glu88LysfsTer9
ENST00000635816.1:c.262del	ENSP00000489707.1:p.Glu88LysfsTer9
ENST00000636056.1:c.262del	ENSP00000490273.1:p.Glu88LysfsTer9
ENST00000638429.1:c.262del	ENSP00000492290.1:p.Glu88LysfsTer9
ENST00000372037.7:c.262del	ENSP00000361107.1:p.Glu88LysfsTer9
NM_004329.2:c.262del , LRG_298t1:c.262del	NP_004320.2:p.Glu88LysfsTer9
XM_011540103.1:c.262del	XP_011538405.1:p.Glu88LysfsTer9
XM_011540104.1:c.262del	XP_011538406.1:p.Glu88LysfsTer9
XM_011540103.2:c.262del	XP_011538405.1:p.Glu88LysfsTer9
XM_011540104.2:c.262del	XP_011538406.1:p.Glu88LysfsTer9
NM_004329.3:c.262del MANE Select	NP_004320.2:p.Glu88LysfsTer9