Canonical Allele Identifier: CA288008
Gene: BMPR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 127901
ClinVar RCV Id: RCV000115828
dbSNP Id: rs587780109
MyVariant Identifiers: chr10:g.88659586del (hg19) chr10:g.86899829del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86899829del , CM000672.2:g.86899829del GRCh38
NC_000010.10:g.88659586del , CM000672.1:g.88659586del GRCh37
NC_000010.9:g.88649566del NCBI36
NG_009362.1:g.148191del , LRG_298:g.148191del

Transcript Alleles

HGVS Amino-acid change
ENST00000480152.3:c.369del ENSP00000483569.2:p.Glu123AspfsTer21
ENST00000635816.2:c.369del ENSP00000489707.1:p.Glu123AspfsTer21
ENST00000636056.2:c.369del ENSP00000490273.1:p.Glu123AspfsTer21
ENST00000372037.8:c.369del MANE Select ENSP00000361107.2:p.Glu123AspfsTer21
ENST00000635816.1:c.369del ENSP00000489707.1:p.Glu123AspfsTer21
ENST00000636056.1:c.369del ENSP00000490273.1:p.Glu123AspfsTer21
ENST00000638429.1:c.369del ENSP00000492290.1:p.Glu123AspfsTer21
ENST00000372037.7:c.369del ENSP00000361107.1:p.Glu123AspfsTer21
NM_004329.2:c.369del , LRG_298t1:c.369del NP_004320.2:p.Glu123AspfsTer21
XM_011540103.1:c.369del XP_011538405.1:p.Glu123AspfsTer21
XM_011540104.1:c.369del XP_011538406.1:p.Glu123AspfsTer21
XM_011540103.2:c.369del XP_011538405.1:p.Glu123AspfsTer21
XM_011540104.2:c.369del XP_011538406.1:p.Glu123AspfsTer21
NM_004329.3:c.369del MANE Select NP_004320.2:p.Glu123AspfsTer21
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