Canonical Allele Identifier: CA2580082109

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 2027394
• ClinVar RCV Id: RCV002889458

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86917329_86917332del , CM000672.2:g.86917329_86917332del	GRCh38
NC_000010.10:g.88677086_88677089del , CM000672.1:g.88677086_88677089del	GRCh37
NC_000010.9:g.88667066_88667069del	NCBI36
NG_009362.1:g.165691_165694del , LRG_298:g.165691_165694del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.868+3_868+6del
ENST00000635816.2:c.868+3_868+6del
ENST00000636056.2:c.868+3_868+6del
ENST00000372037.8:c.868+3_868+6del
ENST00000635816.1:c.868+3_868+6del
ENST00000636056.1:c.868+3_868+6del
ENST00000638429.1:c.868+3_868+6del
ENST00000372037.7:c.868+3_868+6del
NM_004329.2:c.868+3_868+6del , LRG_298t1:c.868+3_868+6del
XM_011540103.1:c.868+3_868+6del
XM_011540104.1:c.868+3_868+6del
XM_011540103.2:c.868+3_868+6del
XM_011540104.2:c.868+3_868+6del
NM_004329.3:c.868+3_868+6del