Canonical Allele Identifier: CA930816094

Gene: BMPR1A

Linked Data

• dbSNP Id: rs1847883569
• gnomAD v3: 10-86757075-TG-T
• gnomAD v4: 10-86757075-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86757078del , CM000672.2:g.86757078del	GRCh38
NC_000010.10:g.88516835del , CM000672.1:g.88516835del	GRCh37
NC_000010.9:g.88506815del	NCBI36
NG_009362.1:g.5440del , LRG_298:g.5440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.-373+159del	ENSP00000483569.2:n.-373+159del
ENST00000635816.2:c.-268+159del	ENSP00000489707.1:n.-268+159del
ENST00000636056.2:c.-268+159del	ENSP00000490273.1:n.-268+159del
ENST00000372037.8:c.-268+159del MANE Select	ENSP00000361107.2:n.-268+159del
ENST00000638429.1:c.-268+159del	ENSP00000492290.1:n.-268+159del
ENST00000372037.7:c.-268+159del	ENSP00000361107.1:n.-268+159del
NM_004329.2:c.-268+159del , LRG_298t1:c.-268+159del	NP_004320.2:n.-268+159del
XM_011540103.1:c.-268+1115del	XP_011538405.1:n.-268+1115del
XM_011540104.1:c.-373+159del	XP_011538406.1:n.-373+159del
XM_011540103.2:c.-268+1115del	XP_011538405.1:n.-268+1115del
XM_011540104.2:c.-373+159del	XP_011538406.1:n.-373+159del
NM_004329.3:c.-268+159del MANE Select	NP_004320.2:n.-268+159del