Canonical Allele Identifier: CA891843326

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 571700
• ClinVar RCV Id: RCV000692917
• dbSNP Id: rs1564673999
• MyVariant Identifiers: chr10:g.88516396_88516676del (hg19) ; chr10:g.86756639_86756919del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86756640_86756920del , CM000672.2:g.86756640_86756920del	GRCh38
NC_000010.10:g.88516397_88516677del , CM000672.1:g.88516397_88516677del	GRCh37
NC_000010.9:g.88506377_88506657del	NCBI36
NG_009362.1:g.5002_5282del , LRG_298:g.5002_5282del

Transcript Alleles

HGVS	Amino-acid change
ENST00000635816.2:c.-547_-268+1del
ENST00000636056.2:c.-547_-268+1del
ENST00000372037.8:c.-547_-268+1del
ENST00000638429.1:c.-547_-268+1del
XM_011540103.1:c.-268+677_-268+957del	XP_011538405.1:n.-268+677_-268+957del
XM_011540103.2:c.-268+677_-268+957del	XP_011538405.1:n.-268+677_-268+957del
NM_004329.3:c.-547_-268+1del