Canonical Allele Identifier: CA2722426334
Gene: BMPR1A HGNC NCBI

Linked Data

dbSNP Id: rs2132556477

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86757126del , CM000672.2:g.86757126del GRCh38
NC_000010.10:g.88516883del , CM000672.1:g.88516883del GRCh37
NC_000010.9:g.88506863del NCBI36
NG_009362.1:g.5488del , LRG_298:g.5488del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480152.3:c.-373+207del ENSP00000483569.2:n.-373+207del
ENST00000635816.2:c.-268+207del ENSP00000489707.1:n.-268+207del
ENST00000636056.2:c.-268+207del ENSP00000490273.1:n.-268+207del
ENST00000372037.8:c.-268+207del MANE Select ENSP00000361107.2:n.-268+207del
ENST00000638429.1:c.-268+207del ENSP00000492290.1:n.-268+207del
ENST00000372037.7:c.-268+207del ENSP00000361107.1:n.-268+207del
NM_004329.2:c.-268+207del , LRG_298t1:c.-268+207del NP_004320.2:n.-268+207del
XM_011540103.1:c.-268+1163del XP_011538405.1:n.-268+1163del
XM_011540104.1:c.-373+207del XP_011538406.1:n.-373+207del
XM_011540103.2:c.-268+1163del XP_011538405.1:n.-268+1163del
XM_011540104.2:c.-373+207del XP_011538406.1:n.-373+207del
NM_004329.3:c.-268+207del MANE Select NP_004320.2:n.-268+207del