Canonical Allele Identifier: CA16612982
Gene: BMPR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 411641
ClinVar RCV Id: RCV002230188
dbSNP Id: rs1060503408
MyVariant Identifiers: chr10:g.88678994del (hg19) chr10:g.86919237del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86919237del , CM000672.2:g.86919237del GRCh38
NC_000010.10:g.88678994del , CM000672.1:g.88678994del GRCh37
NC_000010.9:g.88668974del NCBI36
NG_009362.1:g.167599del , LRG_298:g.167599del

Transcript Alleles

HGVS Amino-acid change
ENST00000480152.3:c.934del ENSP00000483569.2:p.His312MetfsTer10
ENST00000635816.2:c.934del ENSP00000489707.1:p.His312MetfsTer10
ENST00000636056.2:c.934del ENSP00000490273.1:p.His312MetfsTer10
ENST00000372037.8:c.934del MANE Select ENSP00000361107.2:p.His312MetfsTer10
ENST00000635816.1:c.934del ENSP00000489707.1:p.His312MetfsTer10
ENST00000636056.1:c.934del ENSP00000490273.1:p.His312MetfsTer10
ENST00000638429.1:c.934del ENSP00000492290.1:p.His312MetfsTer10
ENST00000372037.7:c.934del ENSP00000361107.1:p.His312MetfsTer10
NM_004329.2:c.934del , LRG_298t1:c.934del NP_004320.2:p.His312MetfsTer10
XM_011540103.1:c.934del XP_011538405.1:p.His312MetfsTer10
XM_011540104.1:c.934del XP_011538406.1:p.His312MetfsTer10
XM_011540103.2:c.934del XP_011538405.1:p.His312MetfsTer10
XM_011540104.2:c.934del XP_011538406.1:p.His312MetfsTer10
NM_004329.3:c.934del MANE Select NP_004320.2:p.His312MetfsTer10
Search 100 bp 5'
Search 100 bp 3'