Canonical Allele Identifier: CA2580082092

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 1795664
• ClinVar RCV Id: RCV002439474

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86892171dup , CM000672.2:g.86892171dup	GRCh38
NC_000010.10:g.88651928dup , CM000672.1:g.88651928dup	GRCh37
NC_000010.9:g.88641908dup	NCBI36
NG_009362.1:g.140533dup , LRG_298:g.140533dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000480152.3:c.275dup	ENSP00000483569.2:p.Glu93ArgfsTer12
ENST00000635816.2:c.275dup	ENSP00000489707.1:p.Glu93ArgfsTer12
ENST00000636056.2:c.275dup	ENSP00000490273.1:p.Glu93ArgfsTer12
ENST00000372037.8:c.275dup MANE Select	ENSP00000361107.2:p.Glu93ArgfsTer12
ENST00000635816.1:c.275dup	ENSP00000489707.1:p.Glu93ArgfsTer12
ENST00000636056.1:c.275dup	ENSP00000490273.1:p.Glu93ArgfsTer12
ENST00000638429.1:c.275dup	ENSP00000492290.1:p.Glu93ArgfsTer12
ENST00000372037.7:c.275dup	ENSP00000361107.1:p.Glu93ArgfsTer12
NM_004329.2:c.275dup , LRG_298t1:c.275dup	NP_004320.2:p.Glu93ArgfsTer12
XM_011540103.1:c.275dup	XP_011538405.1:p.Glu93ArgfsTer12
XM_011540104.1:c.275dup	XP_011538406.1:p.Glu93ArgfsTer12
XM_011540103.2:c.275dup	XP_011538405.1:p.Glu93ArgfsTer12
XM_011540104.2:c.275dup	XP_011538406.1:p.Glu93ArgfsTer12
NM_004329.3:c.275dup MANE Select	NP_004320.2:p.Glu93ArgfsTer12