Canonical Allele Identifier: CA189133
Gene: BMPR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 184498
ClinVar RCV Id: RCV000163765
dbSNP Id: rs786201501
MyVariant Identifiers: chr10:g.88649967dupT (hg19) chr10:g.86890210dupT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86890210dup , CM000672.2:g.86890210dup GRCh38
NC_000010.10:g.88649967dup , CM000672.1:g.88649967dup GRCh37
NC_000010.9:g.88639947dup NCBI36
NG_009362.1:g.138572dup , LRG_298:g.138572dup

Transcript Alleles

HGVS Amino-acid change
ENST00000480152.3:c.216dup ENSP00000483569.2:p.Asn73Ter
ENST00000635816.2:c.216dup ENSP00000489707.1:p.Asn73Ter
ENST00000636056.2:c.216dup ENSP00000490273.1:p.Asn73Ter
ENST00000372037.8:c.216dup MANE Select ENSP00000361107.2:p.Asn73Ter
ENST00000635816.1:c.216dup ENSP00000489707.1:p.Asn73Ter
ENST00000636056.1:c.216dup ENSP00000490273.1:p.Asn73Ter
ENST00000638429.1:c.216dup ENSP00000492290.1:p.Asn73Ter
ENST00000372037.7:c.216dup ENSP00000361107.1:p.Asn73Ter
NM_004329.2:c.216dup , LRG_298t1:c.216dup NP_004320.2:p.Asn73Ter
XM_011540103.1:c.216dup XP_011538405.1:p.Asn73Ter
XM_011540104.1:c.216dup XP_011538406.1:p.Asn73Ter
XM_011540103.2:c.216dup XP_011538405.1:p.Asn73Ter
XM_011540104.2:c.216dup XP_011538406.1:p.Asn73Ter
NM_004329.3:c.216dup MANE Select NP_004320.2:p.Asn73Ter
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