Canonical Allele Identifier: CA1925653563
Gene: BMPR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86757157_86757158delinsGT , CM000672.2:g.86757157_86757158delinsGT GRCh38
NC_000010.10:g.88516914_88516915delinsGT , CM000672.1:g.88516914_88516915delinsGT GRCh37
NC_000010.9:g.88506894_88506895delinsGT NCBI36
NG_009362.1:g.5519_5520delinsGT , LRG_298:g.5519_5520delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000480152.3:c.-373+238_-373+239delinsGT ENSP00000483569.2:n.-373+238_-373+239delinsGT
ENST00000635816.2:c.-268+238_-268+239delinsGT ENSP00000489707.1:n.-268+238_-268+239delinsGT
ENST00000636056.2:c.-268+238_-268+239delinsGT ENSP00000490273.1:n.-268+238_-268+239delinsGT
ENST00000372037.8:c.-268+238_-268+239delinsGT MANE Select ENSP00000361107.2:n.-268+238_-268+239delinsGT
ENST00000638429.1:c.-268+238_-268+239delinsGT ENSP00000492290.1:n.-268+238_-268+239delinsGT
ENST00000372037.7:c.-268+238_-268+239delinsGT ENSP00000361107.1:n.-268+238_-268+239delinsGT
NM_004329.2:c.-268+238_-268+239delinsGT , LRG_298t1:c.-268+238_-268+239delinsGT NP_004320.2:n.-268+238_-268+239delinsGT
XM_011540103.1:c.-268+1194_-268+1195delinsGT XP_011538405.1:n.-268+1194_-268+1195delinsGT
XM_011540104.1:c.-373+238_-373+239delinsGT XP_011538406.1:n.-373+238_-373+239delinsGT
XM_011540103.2:c.-268+1194_-268+1195delinsGT XP_011538405.1:n.-268+1194_-268+1195delinsGT
XM_011540104.2:c.-373+238_-373+239delinsGT XP_011538406.1:n.-373+238_-373+239delinsGT
NM_004329.3:c.-268+238_-268+239delinsGT MANE Select NP_004320.2:n.-268+238_-268+239delinsGT