Canonical Allele Identifier: CA2610000554

Gene: BMPR1A

Linked Data

• gnomAD v4: 10-86757043-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86757047del , CM000672.2:g.86757047del	GRCh38
NC_000010.10:g.88516804del , CM000672.1:g.88516804del	GRCh37
NC_000010.9:g.88506784del	NCBI36
NG_009362.1:g.5409del , LRG_298:g.5409del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.-373+128del	ENSP00000483569.2:n.-373+128del
ENST00000635816.2:c.-268+128del	ENSP00000489707.1:n.-268+128del
ENST00000636056.2:c.-268+128del	ENSP00000490273.1:n.-268+128del
ENST00000372037.8:c.-268+128del MANE Select	ENSP00000361107.2:n.-268+128del
ENST00000638429.1:c.-268+128del	ENSP00000492290.1:n.-268+128del
ENST00000372037.7:c.-268+128del	ENSP00000361107.1:n.-268+128del
NM_004329.2:c.-268+128del , LRG_298t1:c.-268+128del	NP_004320.2:n.-268+128del
XM_011540103.1:c.-268+1084del	XP_011538405.1:n.-268+1084del
XM_011540104.1:c.-373+128del	XP_011538406.1:n.-373+128del
XM_011540103.2:c.-268+1084del	XP_011538405.1:n.-268+1084del
XM_011540104.2:c.-373+128del	XP_011538406.1:n.-373+128del
NM_004329.3:c.-268+128del MANE Select	NP_004320.2:n.-268+128del