Canonical Allele Identifier: CA800318160

Gene: BMPR1B

Linked Data

• dbSNP Id: rs1225311194
• gnomAD v3: 4-95154873-CTG-C
• gnomAD v4: 4-95154873-CTG-C
• MyVariant Identifiers: chr4:g.96076025_96076026del (hg19) ; chr4:g.95154874_95154875del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.95154875_95154876del , CM000666.2:g.95154875_95154876del	GRCh38
NC_000004.11:g.96076026_96076027del , CM000666.1:g.96076026_96076027del	GRCh37
NC_000004.10:g.96295049_96295050del	NCBI36
NG_009245.1:g.401899_401900del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440890.7:c.*202_*203del	ENSP00000401907.2:n.*202_*203del
ENST00000509540.6:c.*13+189_*13+190del	ENSP00000421671.1:n.*13+189_*13+190del
ENST00000515059.6:c.*202_*203del MANE Select	ENSP00000426617.1:n.*202_*203del
ENST00000672698.1:c.*202_*203del	ENSP00000500035.1:n.*202_*203del
ENST00000394931.1:c.*202_*203del	ENSP00000378389.1:n.*202_*203del
ENST00000440890.6:c.*202_*203del	ENSP00000401907.2:n.*202_*203del
ENST00000515059.5:c.*202_*203del	ENSP00000426617.1:n.*202_*203del
NM_001203.2:c.*202_*203del	NP_001194.1:n.*202_*203del
NM_001256792.1:c.*202_*203del	NP_001243721.1:n.*202_*203del
NM_001256793.1:c.*202_*203del	NP_001243722.1:n.*202_*203del
NM_001256794.1:c.*202_*203del	NP_001243723.1:n.*202_*203del
XM_011532201.1:c.*202_*203del	XP_011530503.1:n.*202_*203del
XM_011532202.1:c.*202_*203del	XP_011530504.1:n.*202_*203del
XM_011532201.2:c.*202_*203del	XP_011530503.1:n.*202_*203del
XM_017008558.1:c.*202_*203del	XP_016864047.1:n.*202_*203del
XM_017008559.1:c.*202_*203del	XP_016864048.1:n.*202_*203del
XM_017008560.1:c.*202_*203del	XP_016864049.1:n.*202_*203del
XM_017008561.1:c.*202_*203del	XP_016864050.1:n.*202_*203del
NM_001203.3:c.*202_*203del MANE Select	NP_001194.1:n.*202_*203del
NM_001256793.2:c.*202_*203del	NP_001243722.1:n.*202_*203del
NM_001256792.2:c.*202_*203del	NP_001243721.1:n.*202_*203del