Canonical Allele Identifier: CA2573145688

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 1416153
• ClinVar RCV Id: RCV001935556
• dbSNP Id: rs2133453577

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86899817_86899820del , CM000672.2:g.86899817_86899820del	GRCh38
NC_000010.10:g.88659574_88659577del , CM000672.1:g.88659574_88659577del	GRCh37
NC_000010.9:g.88649554_88649557del	NCBI36
NG_009362.1:g.148179_148182del , LRG_298:g.148179_148182del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480152.3:c.357_360del	ENSP00000483569.2:p.Arg120GlnfsTer2
ENST00000635816.2:c.357_360del	ENSP00000489707.1:p.Arg120GlnfsTer2
ENST00000636056.2:c.357_360del	ENSP00000490273.1:p.Arg120GlnfsTer2
ENST00000372037.8:c.357_360del MANE Select	ENSP00000361107.2:p.Arg120GlnfsTer2
ENST00000635816.1:c.357_360del	ENSP00000489707.1:p.Arg120GlnfsTer2
ENST00000636056.1:c.357_360del	ENSP00000490273.1:p.Arg120GlnfsTer2
ENST00000638429.1:c.357_360del	ENSP00000492290.1:p.Arg120GlnfsTer2
ENST00000372037.7:c.357_360del	ENSP00000361107.1:p.Arg120GlnfsTer2
NM_004329.2:c.357_360del , LRG_298t1:c.357_360del	NP_004320.2:p.Arg120GlnfsTer2
XM_011540103.1:c.357_360del	XP_011538405.1:p.Arg120GlnfsTer2
XM_011540104.1:c.357_360del	XP_011538406.1:p.Arg120GlnfsTer2
XM_011540103.2:c.357_360del	XP_011538405.1:p.Arg120GlnfsTer2
XM_011540104.2:c.357_360del	XP_011538406.1:p.Arg120GlnfsTer2
NM_004329.3:c.357_360del MANE Select	NP_004320.2:p.Arg120GlnfsTer2