Canonical Allele Identifier: CA594896309

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 1606313
• ClinVar RCV Id: RCV002160284
• dbSNP Id: rs1427702408
• gnomAD v2: 10-88659770-AC-A
• gnomAD v4: 10-86900013-AC-A
• MyVariant Identifiers: chr10:g.88659771del (hg19) ; chr10:g.86900014del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86900014del , CM000672.2:g.86900014del	GRCh38
NC_000010.10:g.88659771del , CM000672.1:g.88659771del	GRCh37
NC_000010.9:g.88649751del	NCBI36
NG_009362.1:g.148376del , LRG_298:g.148376del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480152.3:c.431-13del	ENSP00000483569.2:n.431-13del
ENST00000635816.2:c.431-13del	ENSP00000489707.1:n.431-13del
ENST00000636056.2:c.431-13del	ENSP00000490273.1:n.431-13del
ENST00000372037.8:c.431-13del MANE Select	ENSP00000361107.2:n.431-13del
ENST00000635816.1:c.431-13del	ENSP00000489707.1:n.431-13del
ENST00000636056.1:c.431-13del	ENSP00000490273.1:n.431-13del
ENST00000638429.1:c.431-13del	ENSP00000492290.1:n.431-13del
ENST00000372037.7:c.431-13del	ENSP00000361107.1:n.431-13del
NM_004329.2:c.431-13del , LRG_298t1:c.431-13del	NP_004320.2:n.431-13del
XM_011540103.1:c.431-13del	XP_011538405.1:n.431-13del
XM_011540104.1:c.431-13del	XP_011538406.1:n.431-13del
XM_011540103.2:c.431-13del	XP_011538405.1:n.431-13del
XM_011540104.2:c.431-13del	XP_011538406.1:n.431-13del
NM_004329.3:c.431-13del MANE Select	NP_004320.2:n.431-13del