Canonical Allele Identifier: CA2610000473

Gene: BMPR1A

Linked Data

• gnomAD v4: 10-86756940-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86756942del , CM000672.2:g.86756942del	GRCh38
NC_000010.10:g.88516699del , CM000672.1:g.88516699del	GRCh37
NC_000010.9:g.88506679del	NCBI36
NG_009362.1:g.5304del , LRG_298:g.5304del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.-373+23del	ENSP00000483569.2:n.-373+23del
ENST00000635816.2:c.-268+23del	ENSP00000489707.1:n.-268+23del
ENST00000636056.2:c.-268+23del	ENSP00000490273.1:n.-268+23del
ENST00000372037.8:c.-268+23del MANE Select	ENSP00000361107.2:n.-268+23del
ENST00000638429.1:c.-268+23del	ENSP00000492290.1:n.-268+23del
ENST00000372037.7:c.-268+23del	ENSP00000361107.1:n.-268+23del
NM_004329.2:c.-268+23del , LRG_298t1:c.-268+23del	NP_004320.2:n.-268+23del
XM_011540103.1:c.-268+979del	XP_011538405.1:n.-268+979del
XM_011540104.1:c.-373+23del	XP_011538406.1:n.-373+23del
XM_011540103.2:c.-268+979del	XP_011538405.1:n.-268+979del
XM_011540104.2:c.-373+23del	XP_011538406.1:n.-373+23del
NM_004329.3:c.-268+23del MANE Select	NP_004320.2:n.-268+23del