Canonical Allele Identifier: CA1477857833
Gene: BMPR1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.94935485_94935486delinsCT , CM000666.2:g.94935485_94935486delinsCT GRCh38
NC_000004.11:g.95856636_95856637delinsCT , CM000666.1:g.95856636_95856637delinsCT GRCh37
NC_000004.10:g.96075659_96075660delinsCT NCBI36
NG_009245.1:g.182509_182510delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000515059.6:c.-113+59585_-113+59586delinsCT MANE Select ENSP00000426617.1:n.-113+59585_-113+59586...
ENST00000515059.5:c.-113+59585_-113+59586delinsCT ENSP00000426617.1:n.-113+59585_-113+59586...
NM_001203.2:c.-113+59585_-113+59586delinsCT NP_001194.1:n.-113+59585_-113+59586delins...
XM_011532201.1:c.-18+59585_-18+59586delinsCT XP_011530503.1:n.-18+59585_-18+59586delin...
XM_011532201.2:c.-18+59585_-18+59586delinsCT XP_011530503.1:n.-18+59585_-18+59586delin...
XM_017008558.1:c.-113+59585_-113+59586delinsCT XP_016864047.1:n.-113+59585_-113+59586del...
XM_017008559.1:c.-113+36435_-113+36436delinsCT XP_016864048.1:n.-113+36435_-113+36436del...
NM_001203.3:c.-113+59585_-113+59586delinsCT MANE Select NP_001194.1:n.-113+59585_-113+59586delins...