Canonical Allele Identifier: CA2762706573

Gene: BMPR1B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.95154742_95154743insACCAAACACACCCAA , CM000666.2:g.95154742_95154743insACCAAACACACCCAA	GRCh38
NC_000004.11:g.96075893_96075894insACCAAACACACCCAA , CM000666.1:g.96075893_96075894insACCAAACACACCCAA	GRCh37
NC_000004.10:g.96294916_96294917insACCAAACACACCCAA	NCBI36
NG_009245.1:g.401766_401767insACCAAACACACCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440890.7:c.*69_*70insACCAAACACACCCAA	ENSP00000401907.2:n.*69_*70insACCAAACACACCCAA
ENST00000509540.6:c.*13+56_*13+57insACCAAACACACCCAA	ENSP00000421671.1:n.*13+56_*13+57insACCAAACACACCCAA
ENST00000515059.6:c.*69_*70insACCAAACACACCCAA MANE Select	ENSP00000426617.1:n.*69_*70insACCAAACACACCCAA
ENST00000672698.1:c.*69_*70insACCAAACACACCCAA	ENSP00000500035.1:n.*69_*70insACCAAACACACCCAA
ENST00000264568.8:c.*69_*70insACCAAACACACCCAA	ENSP00000264568.4:n.*69_*70insACCAAACACACCCAA
ENST00000394931.1:c.*69_*70insACCAAACACACCCAA	ENSP00000378389.1:n.*69_*70insACCAAACACACCCAA
ENST00000440890.6:c.*69_*70insACCAAACACACCCAA	ENSP00000401907.2:n.*69_*70insACCAAACACACCCAA
ENST00000509540.5:c.*69_*70insACCAAACACACCCAA	ENSP00000421671.1:n.*69_*70insACCAAACACACCCAA
ENST00000515059.5:c.*69_*70insACCAAACACACCCAA	ENSP00000426617.1:n.*69_*70insACCAAACACACCCAA
NM_001203.2:c.*69_*70insACCAAACACACCCAA	NP_001194.1:n.*69_*70insACCAAACACACCCAA
NM_001256792.1:c.*69_*70insACCAAACACACCCAA	NP_001243721.1:n.*69_*70insACCAAACACACCCAA
NM_001256793.1:c.*69_*70insACCAAACACACCCAA	NP_001243722.1:n.*69_*70insACCAAACACACCCAA
NM_001256794.1:c.*69_*70insACCAAACACACCCAA	NP_001243723.1:n.*69_*70insACCAAACACACCCAA
XM_011532201.1:c.*69_*70insACCAAACACACCCAA	XP_011530503.1:n.*69_*70insACCAAACACACCCAA
XM_011532202.1:c.*69_*70insACCAAACACACCCAA	XP_011530504.1:n.*69_*70insACCAAACACACCCAA
XM_011532201.2:c.*69_*70insACCAAACACACCCAA	XP_011530503.1:n.*69_*70insACCAAACACACCCAA
XM_017008558.1:c.*69_*70insACCAAACACACCCAA	XP_016864047.1:n.*69_*70insACCAAACACACCCAA
XM_017008559.1:c.*69_*70insACCAAACACACCCAA	XP_016864048.1:n.*69_*70insACCAAACACACCCAA
XM_017008560.1:c.*69_*70insACCAAACACACCCAA	XP_016864049.1:n.*69_*70insACCAAACACACCCAA
XM_017008561.1:c.*69_*70insACCAAACACACCCAA	XP_016864050.1:n.*69_*70insACCAAACACACCCAA
NM_001203.3:c.*69_*70insACCAAACACACCCAA MANE Select	NP_001194.1:n.*69_*70insACCAAACACACCCAA
NM_001256793.2:c.*69_*70insACCAAACACACCCAA	NP_001243722.1:n.*69_*70insACCAAACACACCCAA
NM_001256792.2:c.*69_*70insACCAAACACACCCAA	NP_001243721.1:n.*69_*70insACCAAACACACCCAA