Canonical Allele Identifier: CA1925706589
Gene: BMPR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86890543_86890544delinsCA , CM000672.2:g.86890543_86890544delinsCA GRCh38
NC_000010.10:g.88650300_88650301delinsCA , CM000672.1:g.88650300_88650301delinsCA GRCh37
NC_000010.9:g.88640280_88640281delinsCA NCBI36
NG_009362.1:g.138905_138906delinsCA , LRG_298:g.138905_138906delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000480152.3:c.230+319_230+320delinsCA ENSP00000483569.2:n.230+319_230+320delinsCA
ENST00000635816.2:c.230+319_230+320delinsCA ENSP00000489707.1:n.230+319_230+320delinsCA
ENST00000636056.2:c.230+319_230+320delinsCA ENSP00000490273.1:n.230+319_230+320delinsCA
ENST00000372037.8:c.230+319_230+320delinsCA MANE Select ENSP00000361107.2:n.230+319_230+320delinsCA
ENST00000635816.1:c.230+319_230+320delinsCA ENSP00000489707.1:n.230+319_230+320delinsCA
ENST00000636056.1:c.230+319_230+320delinsCA ENSP00000490273.1:n.230+319_230+320delinsCA
ENST00000638429.1:c.230+319_230+320delinsCA ENSP00000492290.1:n.230+319_230+320delinsCA
ENST00000372037.7:c.230+319_230+320delinsCA ENSP00000361107.1:n.230+319_230+320delinsCA
NM_004329.2:c.230+319_230+320delinsCA , LRG_298t1:c.230+319_230+320delinsCA NP_004320.2:n.230+319_230+320delinsCA
XM_011540103.1:c.230+319_230+320delinsCA XP_011538405.1:n.230+319_230+320delinsCA
XM_011540104.1:c.230+319_230+320delinsCA XP_011538406.1:n.230+319_230+320delinsCA
XM_011540103.2:c.230+319_230+320delinsCA XP_011538405.1:n.230+319_230+320delinsCA
XM_011540104.2:c.230+319_230+320delinsCA XP_011538406.1:n.230+319_230+320delinsCA
NM_004329.3:c.230+319_230+320delinsCA MANE Select NP_004320.2:n.230+319_230+320delinsCA