Canonical Allele Identifier: CA2788868250

Gene: BMPR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86757247_86757266del , CM000672.2:g.86757247_86757266del	GRCh38
NC_000010.10:g.88517004_88517023del , CM000672.1:g.88517004_88517023del	GRCh37
NC_000010.9:g.88506984_88507003del	NCBI36
NG_009362.1:g.5609_5628del , LRG_298:g.5609_5628del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.-373+328_-373+347del	ENSP00000483569.2:n.-373+328_-373+347del
ENST00000635816.2:c.-268+328_-268+347del	ENSP00000489707.1:n.-268+328_-268+347del
ENST00000636056.2:c.-268+328_-268+347del	ENSP00000490273.1:n.-268+328_-268+347del
ENST00000372037.8:c.-268+328_-268+347del MANE Select	ENSP00000361107.2:n.-268+328_-268+347del
ENST00000638429.1:c.-268+328_-268+347del	ENSP00000492290.1:n.-268+328_-268+347del
ENST00000372037.7:c.-268+328_-268+347del	ENSP00000361107.1:n.-268+328_-268+347del
NM_004329.2:c.-268+328_-268+347del , LRG_298t1:c.-268+328_-268+347del	NP_004320.2:n.-268+328_-268+347del
XM_011540103.1:c.-268+1284_-268+1303del	XP_011538405.1:n.-268+1284_-268+1303del
XM_011540104.1:c.-373+328_-373+347del	XP_011538406.1:n.-373+328_-373+347del
XM_011540103.2:c.-268+1284_-268+1303del	XP_011538405.1:n.-268+1284_-268+1303del
XM_011540104.2:c.-373+328_-373+347del	XP_011538406.1:n.-373+328_-373+347del
NM_004329.3:c.-268+328_-268+347del MANE Select	NP_004320.2:n.-268+328_-268+347del