Canonical Allele Identifier: CA1065615660
Gene: BMPR1B HGNC NCBI

Linked Data

gnomAD v3: 4-94935625-GCAGAAAT-G
gnomAD v4: 4-94935625-GCAGAAAT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.94935626_94935632del , CM000666.2:g.94935626_94935632del GRCh38
NC_000004.11:g.95856777_95856783del , CM000666.1:g.95856777_95856783del GRCh37
NC_000004.10:g.96075800_96075806del NCBI36
NG_009245.1:g.182650_182656del

Transcript Alleles

HGVS Amino-acid Change
ENST00000515059.6:c.-113+59726_-113+59732del MANE Select ENSP00000426617.1:n.-113+59726_-113+59732del
ENST00000515059.5:c.-113+59726_-113+59732del ENSP00000426617.1:n.-113+59726_-113+59732del
NM_001203.2:c.-113+59726_-113+59732del NP_001194.1:n.-113+59726_-113+59732del
XM_011532201.1:c.-18+59726_-18+59732del XP_011530503.1:n.-18+59726_-18+59732del
XM_011532201.2:c.-18+59726_-18+59732del XP_011530503.1:n.-18+59726_-18+59732del
XM_017008558.1:c.-113+59726_-113+59732del XP_016864047.1:n.-113+59726_-113+59732del
XM_017008559.1:c.-113+36576_-113+36582del XP_016864048.1:n.-113+36576_-113+36582del
NM_001203.3:c.-113+59726_-113+59732del MANE Select NP_001194.1:n.-113+59726_-113+59732del
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