Canonical Allele Identifier: CA645369423

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 429093
• ClinVar RCV Id: RCV000494501
• dbSNP Id: rs1131691173
• MyVariant Identifiers: chr10:g.88659584del (hg19) ; chr10:g.86899827del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86899827del , CM000672.2:g.86899827del	GRCh38
NC_000010.10:g.88659584del , CM000672.1:g.88659584del	GRCh37
NC_000010.9:g.88649564del	NCBI36
NG_009362.1:g.148189del , LRG_298:g.148189del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480152.3:c.367del	ENSP00000483569.2:p.Glu123AsnfsTer21
ENST00000635816.2:c.367del	ENSP00000489707.1:p.Glu123AsnfsTer21
ENST00000636056.2:c.367del	ENSP00000490273.1:p.Glu123AsnfsTer21
ENST00000372037.8:c.367del MANE Select	ENSP00000361107.2:p.Glu123AsnfsTer21
ENST00000635816.1:c.367del	ENSP00000489707.1:p.Glu123AsnfsTer21
ENST00000636056.1:c.367del	ENSP00000490273.1:p.Glu123AsnfsTer21
ENST00000638429.1:c.367del	ENSP00000492290.1:p.Glu123AsnfsTer21
ENST00000372037.7:c.367del	ENSP00000361107.1:p.Glu123AsnfsTer21
NM_004329.2:c.367del , LRG_298t1:c.367del	NP_004320.2:p.Glu123AsnfsTer21
XM_011540103.1:c.367del	XP_011538405.1:p.Glu123AsnfsTer21
XM_011540104.1:c.367del	XP_011538406.1:p.Glu123AsnfsTer21
XM_011540103.2:c.367del	XP_011538405.1:p.Glu123AsnfsTer21
XM_011540104.2:c.367del	XP_011538406.1:p.Glu123AsnfsTer21
NM_004329.3:c.367del MANE Select	NP_004320.2:p.Glu123AsnfsTer21