Canonical Allele Identifier: CA1925706386
Gene: BMPR1A HGNC NCBI

Linked Data

dbSNP Id: rs1843129667

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86890286_86890287del , CM000672.2:g.86890286_86890287del GRCh38
NC_000010.10:g.88650043_88650044del , CM000672.1:g.88650043_88650044del GRCh37
NC_000010.9:g.88640023_88640024del NCBI36
NG_009362.1:g.138648_138649del , LRG_298:g.138648_138649del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480152.3:c.230+62_230+63del ENSP00000483569.2:n.230+62_230+63del
ENST00000635816.2:c.230+62_230+63del ENSP00000489707.1:n.230+62_230+63del
ENST00000636056.2:c.230+62_230+63del ENSP00000490273.1:n.230+62_230+63del
ENST00000372037.8:c.230+62_230+63del MANE Select ENSP00000361107.2:n.230+62_230+63del
ENST00000635816.1:c.230+62_230+63del ENSP00000489707.1:n.230+62_230+63del
ENST00000636056.1:c.230+62_230+63del ENSP00000490273.1:n.230+62_230+63del
ENST00000638429.1:c.230+62_230+63del ENSP00000492290.1:n.230+62_230+63del
ENST00000372037.7:c.230+62_230+63del ENSP00000361107.1:n.230+62_230+63del
NM_004329.2:c.230+62_230+63del , LRG_298t1:c.230+62_230+63del NP_004320.2:n.230+62_230+63del
XM_011540103.1:c.230+62_230+63del XP_011538405.1:n.230+62_230+63del
XM_011540104.1:c.230+62_230+63del XP_011538406.1:n.230+62_230+63del
XM_011540103.2:c.230+62_230+63del XP_011538405.1:n.230+62_230+63del
XM_011540104.2:c.230+62_230+63del XP_011538406.1:n.230+62_230+63del
NM_004329.3:c.230+62_230+63del MANE Select NP_004320.2:n.230+62_230+63del