Canonical Allele Identifier: CA2762701565
Gene: BMPR1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.94935554_94935560del , CM000666.2:g.94935554_94935560del GRCh38
NC_000004.11:g.95856705_95856711del , CM000666.1:g.95856705_95856711del GRCh37
NC_000004.10:g.96075728_96075734del NCBI36
NG_009245.1:g.182578_182584del

Transcript Alleles

HGVS Amino-acid Change
ENST00000515059.6:c.-113+59654_-113+59660del MANE Select ENSP00000426617.1:n.-113+59654_-113+59660del
ENST00000515059.5:c.-113+59654_-113+59660del ENSP00000426617.1:n.-113+59654_-113+59660del
NM_001203.2:c.-113+59654_-113+59660del NP_001194.1:n.-113+59654_-113+59660del
XM_011532201.1:c.-18+59654_-18+59660del XP_011530503.1:n.-18+59654_-18+59660del
XM_011532201.2:c.-18+59654_-18+59660del XP_011530503.1:n.-18+59654_-18+59660del
XM_017008558.1:c.-113+59654_-113+59660del XP_016864047.1:n.-113+59654_-113+59660del
XM_017008559.1:c.-113+36504_-113+36510del XP_016864048.1:n.-113+36504_-113+36510del
NM_001203.3:c.-113+59654_-113+59660del MANE Select NP_001194.1:n.-113+59654_-113+59660del