Canonical Allele Identifier: CA2580615535

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 2019534
• ClinVar RCV Id: RCV002847175

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86917129_86917130del , CM000672.2:g.86917129_86917130del	GRCh38
NC_000010.10:g.88676886_88676887del , CM000672.1:g.88676886_88676887del	GRCh37
NC_000010.9:g.88666866_88666867del	NCBI36
NG_009362.1:g.165491_165492del , LRG_298:g.165491_165492del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480152.3:c.676-5_676-4del	ENSP00000483569.2:n.676-5_676-4del
ENST00000635816.2:c.676-5_676-4del	ENSP00000489707.1:n.676-5_676-4del
ENST00000636056.2:c.676-5_676-4del	ENSP00000490273.1:n.676-5_676-4del
ENST00000372037.8:c.676-5_676-4del MANE Select	ENSP00000361107.2:n.676-5_676-4del
ENST00000635816.1:c.676-5_676-4del	ENSP00000489707.1:n.676-5_676-4del
ENST00000636056.1:c.676-5_676-4del	ENSP00000490273.1:n.676-5_676-4del
ENST00000638429.1:c.676-5_676-4del	ENSP00000492290.1:n.676-5_676-4del
ENST00000372037.7:c.676-5_676-4del	ENSP00000361107.1:n.676-5_676-4del
NM_004329.2:c.676-5_676-4del , LRG_298t1:c.676-5_676-4del	NP_004320.2:n.676-5_676-4del
XM_011540103.1:c.676-5_676-4del	XP_011538405.1:n.676-5_676-4del
XM_011540104.1:c.676-5_676-4del	XP_011538406.1:n.676-5_676-4del
XM_011540103.2:c.676-5_676-4del	XP_011538405.1:n.676-5_676-4del
XM_011540104.2:c.676-5_676-4del	XP_011538406.1:n.676-5_676-4del
NM_004329.3:c.676-5_676-4del MANE Select	NP_004320.2:n.676-5_676-4del