Canonical Allele Identifier: CA1477857941
Gene: BMPR1B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.94935601_94935603delinsGTA , CM000666.2:g.94935601_94935603delinsGTA GRCh38
NC_000004.11:g.95856752_95856754delinsGTA , CM000666.1:g.95856752_95856754delinsGTA GRCh37
NC_000004.10:g.96075775_96075777delinsGTA NCBI36
NG_009245.1:g.182625_182627delinsGTA

Transcript Alleles

HGVS Amino-acid change
ENST00000515059.6:c.-113+59701_-113+59703delinsGTA MANE Select ENSP00000426617.1:n.-113+59701_-113+59703delinsGTA
ENST00000515059.5:c.-113+59701_-113+59703delinsGTA ENSP00000426617.1:n.-113+59701_-113+59703delinsGTA
NM_001203.2:c.-113+59701_-113+59703delinsGTA NP_001194.1:n.-113+59701_-113+59703delinsGTA
XM_011532201.1:c.-18+59701_-18+59703delinsGTA XP_011530503.1:n.-18+59701_-18+59703delinsGTA
XM_011532201.2:c.-18+59701_-18+59703delinsGTA XP_011530503.1:n.-18+59701_-18+59703delinsGTA
XM_017008558.1:c.-113+59701_-113+59703delinsGTA XP_016864047.1:n.-113+59701_-113+59703delinsGTA
XM_017008559.1:c.-113+36551_-113+36553delinsGTA XP_016864048.1:n.-113+36551_-113+36553delinsGTA
NM_001203.3:c.-113+59701_-113+59703delinsGTA MANE Select NP_001194.1:n.-113+59701_-113+59703delinsGTA
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