Canonical Allele Identifier: CA658797453

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 529908
• ClinVar RCV Id: RCV001376603 ; RCV002331136 ; RCV000635432
• dbSNP Id: rs1554886816
• MyVariant Identifiers: chr10:g.88635819_88635822del (hg19) ; chr10:g.86876062_86876065del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86876062_86876065del , CM000672.2:g.86876062_86876065del	GRCh38
NC_000010.10:g.88635819_88635822del , CM000672.1:g.88635819_88635822del	GRCh37
NC_000010.9:g.88625799_88625802del	NCBI36
NG_009362.1:g.124424_124427del , LRG_298:g.124424_124427del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.44_47del	ENSP00000483569.2:p.Leu15SerfsTer20
ENST00000635816.2:c.44_47del	ENSP00000489707.1:p.Leu15SerfsTer20
ENST00000636056.2:c.44_47del	ENSP00000490273.1:p.Leu15SerfsTer20
ENST00000372037.8:c.44_47del MANE Select	ENSP00000361107.2:p.Leu15SerfsTer20
ENST00000635816.1:c.44_47del	ENSP00000489707.1:p.Leu15SerfsTer20
ENST00000636056.1:c.44_47del	ENSP00000490273.1:p.Leu15SerfsTer20
ENST00000638429.1:c.44_47del	ENSP00000492290.1:p.Leu15SerfsTer20
ENST00000372037.7:c.44_47del	ENSP00000361107.1:p.Leu15SerfsTer20
ENST00000480152.2:c.44_47del	ENSP00000483569.1:p.Leu15SerfsTer20
NM_004329.2:c.44_47del , LRG_298t1:c.44_47del	NP_004320.2:p.Leu15SerfsTer20
XM_011540103.1:c.44_47del	XP_011538405.1:p.Leu15SerfsTer20
XM_011540104.1:c.44_47del	XP_011538406.1:p.Leu15SerfsTer20
XM_011540103.2:c.44_47del	XP_011538405.1:p.Leu15SerfsTer20
XM_011540104.2:c.44_47del	XP_011538406.1:p.Leu15SerfsTer20
NM_004329.3:c.44_47del MANE Select	NP_004320.2:p.Leu15SerfsTer20