Canonical Allele Identifier: CA2695212262
Gene: BMPR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86917328_86917329del , CM000672.2:g.86917328_86917329del GRCh38
NC_000010.10:g.88677085_88677086del , CM000672.1:g.88677085_88677086del GRCh37
NC_000010.9:g.88667065_88667066del NCBI36
NG_009362.1:g.165690_165691del , LRG_298:g.165690_165691del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480152.3:c.868+2_868+3del ENSP00000483569.2:n.868+2_868+3del
ENST00000635816.2:c.868+2_868+3del ENSP00000489707.1:n.868+2_868+3del
ENST00000636056.2:c.868+2_868+3del ENSP00000490273.1:n.868+2_868+3del
ENST00000372037.8:c.868+2_868+3del MANE Select ENSP00000361107.2:n.868+2_868+3del
ENST00000635816.1:c.868+2_868+3del ENSP00000489707.1:n.868+2_868+3del
ENST00000636056.1:c.868+2_868+3del ENSP00000490273.1:n.868+2_868+3del
ENST00000638429.1:c.868+2_868+3del ENSP00000492290.1:n.868+2_868+3del
ENST00000372037.7:c.868+2_868+3del ENSP00000361107.1:n.868+2_868+3del
NM_004329.2:c.868+2_868+3del , LRG_298t1:c.868+2_868+3del NP_004320.2:n.868+2_868+3del
XM_011540103.1:c.868+2_868+3del XP_011538405.1:n.868+2_868+3del
XM_011540104.1:c.868+2_868+3del XP_011538406.1:n.868+2_868+3del
XM_011540103.2:c.868+2_868+3del XP_011538405.1:n.868+2_868+3del
XM_011540104.2:c.868+2_868+3del XP_011538406.1:n.868+2_868+3del
NM_004329.3:c.868+2_868+3del MANE Select NP_004320.2:n.868+2_868+3del