Canonical Allele Identifier: CA800318161

Gene: BMPR1B

Linked Data

• dbSNP Id: rs1345597788
• gnomAD v3: 4-95154873-CTGTT-C
• gnomAD v4: 4-95154873-CTGTT-C
• MyVariant Identifiers: chr4:g.96076025_96076028del (hg19) ; chr4:g.95154874_95154877del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.95154877_95154880del , CM000666.2:g.95154877_95154880del	GRCh38
NC_000004.11:g.96076028_96076031del , CM000666.1:g.96076028_96076031del	GRCh37
NC_000004.10:g.96295051_96295054del	NCBI36
NG_009245.1:g.401901_401904del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440890.7:c.*204_*207del	ENSP00000401907.2:n.*204_*207del
ENST00000509540.6:c.*13+191_*13+194del	ENSP00000421671.1:n.*13+191_*13+194del
ENST00000515059.6:c.*204_*207del MANE Select	ENSP00000426617.1:n.*204_*207del
ENST00000672698.1:c.*204_*207del	ENSP00000500035.1:n.*204_*207del
ENST00000394931.1:c.*204_*207del	ENSP00000378389.1:n.*204_*207del
ENST00000440890.6:c.*204_*207del	ENSP00000401907.2:n.*204_*207del
ENST00000515059.5:c.*204_*207del	ENSP00000426617.1:n.*204_*207del
NM_001203.2:c.*204_*207del	NP_001194.1:n.*204_*207del
NM_001256792.1:c.*204_*207del	NP_001243721.1:n.*204_*207del
NM_001256793.1:c.*204_*207del	NP_001243722.1:n.*204_*207del
NM_001256794.1:c.*204_*207del	NP_001243723.1:n.*204_*207del
XM_011532201.1:c.*204_*207del	XP_011530503.1:n.*204_*207del
XM_011532202.1:c.*204_*207del	XP_011530504.1:n.*204_*207del
XM_011532201.2:c.*204_*207del	XP_011530503.1:n.*204_*207del
XM_017008558.1:c.*204_*207del	XP_016864047.1:n.*204_*207del
XM_017008559.1:c.*204_*207del	XP_016864048.1:n.*204_*207del
XM_017008560.1:c.*204_*207del	XP_016864049.1:n.*204_*207del
XM_017008561.1:c.*204_*207del	XP_016864050.1:n.*204_*207del
NM_001203.3:c.*204_*207del MANE Select	NP_001194.1:n.*204_*207del
NM_001256793.2:c.*204_*207del	NP_001243722.1:n.*204_*207del
NM_001256792.2:c.*204_*207del	NP_001243721.1:n.*204_*207del