Canonical Allele Identifier: CA270829
Gene: BMPR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 156485
ClinVar RCV Id: RCV000144578
dbSNP Id: rs587783038
MyVariant Identifiers: chr10:g.88649866_88649867insA (hg19) chr10:g.86890109_86890110insA (hg38)
PubMed: PMID:11536076 PMID:15235019 PMID:16436638 PMID:16525031 PMID:18823382 PMID:19438883 PMID:23399955
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86890109_86890110insA , CM000672.2:g.86890109_86890110insA GRCh38
NC_000010.10:g.88649866_88649867insA , CM000672.1:g.88649866_88649867insA GRCh37
NC_000010.9:g.88639846_88639847insA NCBI36
NG_009362.1:g.138471_138472insA , LRG_298:g.138471_138472insA

Transcript Alleles

HGVS Amino-acid change
ENST00000480152.3:c.115_116insA ENSP00000483569.2:p.Ser39TyrfsTer?
ENST00000635816.2:c.115_116insA ENSP00000489707.1:p.Ser39TyrfsTer?
ENST00000636056.2:c.115_116insA ENSP00000490273.1:p.Ser39TyrfsTer?
ENST00000372037.8:c.115_116insA MANE Select ENSP00000361107.2:p.Ser39TyrfsTer?
ENST00000635816.1:c.115_116insA ENSP00000489707.1:p.Ser39TyrfsTer?
ENST00000636056.1:c.115_116insA ENSP00000490273.1:p.Ser39TyrfsTer?
ENST00000638429.1:c.115_116insA ENSP00000492290.1:p.Ser39TyrfsTer?
ENST00000372037.7:c.115_116insA ENSP00000361107.1:p.Ser39TyrfsTer?
ENST00000480152.2:c.115_116insA ENSP00000483569.1:p.Ser39TyrfsTer?
NM_004329.2:c.115_116insA , LRG_298t1:c.115_116insA NP_004320.2:p.Ser39TyrfsTer?
XM_011540103.1:c.115_116insA XP_011538405.1:p.Ser39TyrfsTer?
XM_011540104.1:c.115_116insA XP_011538406.1:p.Ser39TyrfsTer?
XM_011540103.2:c.115_116insA XP_011538405.1:p.Ser39TyrfsTer?
XM_011540104.2:c.115_116insA XP_011538406.1:p.Ser39TyrfsTer?
NM_004329.3:c.115_116insA MANE Select NP_004320.2:p.Ser39TyrfsTer?
Search 100 bp 5'
Search 100 bp 3'