Canonical Allele Identifier: CA2573145692
Gene: BMPR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1607042
ClinVar RCV Id: RCV002139623
dbSNP Id: rs2133574252

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86917125del , CM000672.2:g.86917125del GRCh38
NC_000010.10:g.88676882del , CM000672.1:g.88676882del GRCh37
NC_000010.9:g.88666862del NCBI36
NG_009362.1:g.165487del , LRG_298:g.165487del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480152.3:c.676-9del ENSP00000483569.2:n.676-9del
ENST00000635816.2:c.676-9del ENSP00000489707.1:n.676-9del
ENST00000636056.2:c.676-9del ENSP00000490273.1:n.676-9del
ENST00000372037.8:c.676-9del MANE Select ENSP00000361107.2:n.676-9del
ENST00000635816.1:c.676-9del ENSP00000489707.1:n.676-9del
ENST00000636056.1:c.676-9del ENSP00000490273.1:n.676-9del
ENST00000638429.1:c.676-9del ENSP00000492290.1:n.676-9del
ENST00000372037.7:c.676-9del ENSP00000361107.1:n.676-9del
NM_004329.2:c.676-9del , LRG_298t1:c.676-9del NP_004320.2:n.676-9del
XM_011540103.1:c.676-9del XP_011538405.1:n.676-9del
XM_011540104.1:c.676-9del XP_011538406.1:n.676-9del
XM_011540103.2:c.676-9del XP_011538405.1:n.676-9del
XM_011540104.2:c.676-9del XP_011538406.1:n.676-9del
NM_004329.3:c.676-9del MANE Select NP_004320.2:n.676-9del