Canonical Allele Identifier: CA1477875591
Gene: BMPR1B HGNC NCBI

Linked Data

dbSNP Id: rs1729253194

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.94935394_94935403dup , CM000666.2:g.94935394_94935403dup GRCh38
NC_000004.11:g.95856545_95856554dup , CM000666.1:g.95856545_95856554dup GRCh37
NC_000004.10:g.96075568_96075577dup NCBI36
NG_009245.1:g.182418_182427dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000515059.6:c.-113+59494_-113+59503dup MANE Select ENSP00000426617.1:n.-113+59494_-113+59503dup
ENST00000515059.5:c.-113+59494_-113+59503dup ENSP00000426617.1:n.-113+59494_-113+59503dup
NM_001203.2:c.-113+59494_-113+59503dup NP_001194.1:n.-113+59494_-113+59503dup
XM_011532201.1:c.-18+59494_-18+59503dup XP_011530503.1:n.-18+59494_-18+59503dup
XM_011532201.2:c.-18+59494_-18+59503dup XP_011530503.1:n.-18+59494_-18+59503dup
XM_017008558.1:c.-113+59494_-113+59503dup XP_016864047.1:n.-113+59494_-113+59503dup
XM_017008559.1:c.-113+36344_-113+36353dup XP_016864048.1:n.-113+36344_-113+36353dup
NM_001203.3:c.-113+59494_-113+59503dup MANE Select NP_001194.1:n.-113+59494_-113+59503dup