Canonical Allele Identifier: CA334485

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 188270
• ClinVar RCV Id: RCV001387724
• dbSNP Id: rs786204187
• MyVariant Identifiers: chr10:g.88651896_88651900del (hg19) ; chr10:g.86892139_86892143del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86892143_86892147del , CM000672.2:g.86892143_86892147del	GRCh38
NC_000010.10:g.88651900_88651904del , CM000672.1:g.88651900_88651904del	GRCh37
NC_000010.9:g.88641880_88641884del	NCBI36
NG_009362.1:g.140505_140509del , LRG_298:g.140505_140509del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480152.3:c.247_251del	ENSP00000483569.2:p.Phe83HisfsTer6
ENST00000635816.2:c.247_251del	ENSP00000489707.1:p.Phe83HisfsTer6
ENST00000636056.2:c.247_251del	ENSP00000490273.1:p.Phe83HisfsTer6
ENST00000372037.8:c.247_251del MANE Select	ENSP00000361107.2:p.Phe83HisfsTer6
ENST00000635816.1:c.247_251del	ENSP00000489707.1:p.Phe83HisfsTer6
ENST00000636056.1:c.247_251del	ENSP00000490273.1:p.Phe83HisfsTer6
ENST00000638429.1:c.247_251del	ENSP00000492290.1:p.Phe83HisfsTer6
ENST00000372037.7:c.247_251del	ENSP00000361107.1:p.Phe83HisfsTer6
NM_004329.2:c.247_251del , LRG_298t1:c.247_251del	NP_004320.2:p.Phe83HisfsTer6
XM_011540103.1:c.247_251del	XP_011538405.1:p.Phe83HisfsTer6
XM_011540104.1:c.247_251del	XP_011538406.1:p.Phe83HisfsTer6
XM_011540103.2:c.247_251del	XP_011538405.1:p.Phe83HisfsTer6
XM_011540104.2:c.247_251del	XP_011538406.1:p.Phe83HisfsTer6
NM_004329.3:c.247_251del MANE Select	NP_004320.2:p.Phe83HisfsTer6