Canonical Allele Identifier: CA1925653526

Gene: BMPR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86757134_86757136delinsCCT , CM000672.2:g.86757134_86757136delinsCCT	GRCh38
NC_000010.10:g.88516891_88516893delinsCCT , CM000672.1:g.88516891_88516893delinsCCT	GRCh37
NC_000010.9:g.88506871_88506873delinsCCT	NCBI36
NG_009362.1:g.5496_5498delinsCCT , LRG_298:g.5496_5498delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.-373+215_-373+217delinsCCT	ENSP00000483569.2:n.-373+215_-373+217delinsCCT
ENST00000635816.2:c.-268+215_-268+217delinsCCT	ENSP00000489707.1:n.-268+215_-268+217delinsCCT
ENST00000636056.2:c.-268+215_-268+217delinsCCT	ENSP00000490273.1:n.-268+215_-268+217delinsCCT
ENST00000372037.8:c.-268+215_-268+217delinsCCT MANE Select	ENSP00000361107.2:n.-268+215_-268+217delinsCCT
ENST00000638429.1:c.-268+215_-268+217delinsCCT	ENSP00000492290.1:n.-268+215_-268+217delinsCCT
ENST00000372037.7:c.-268+215_-268+217delinsCCT	ENSP00000361107.1:n.-268+215_-268+217delinsCCT
NM_004329.2:c.-268+215_-268+217delinsCCT , LRG_298t1:c.-268+215_-268+217delinsCCT	NP_004320.2:n.-268+215_-268+217delinsCCT
XM_011540103.1:c.-268+1171_-268+1173delinsCCT	XP_011538405.1:n.-268+1171_-268+1173delinsCCT
XM_011540104.1:c.-373+215_-373+217delinsCCT	XP_011538406.1:n.-373+215_-373+217delinsCCT
XM_011540103.2:c.-268+1171_-268+1173delinsCCT	XP_011538405.1:n.-268+1171_-268+1173delinsCCT
XM_011540104.2:c.-373+215_-373+217delinsCCT	XP_011538406.1:n.-373+215_-373+217delinsCCT
NM_004329.3:c.-268+215_-268+217delinsCCT MANE Select	NP_004320.2:n.-268+215_-268+217delinsCCT