Canonical Allele Identifier: CA1925715076

Gene: BMPR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86900036_86900054delinsTTGATGGCAGCATTCGATG , CM000672.2:g.86900036_86900054delinsTTGATGGCAGCATTCGATG	GRCh38
NC_000010.10:g.88659793_88659811delinsTTGATGGCAGCATTCGATG , CM000672.1:g.88659793_88659811delinsTTGATGGCAGCATTCGATG	GRCh37
NC_000010.9:g.88649773_88649791delinsTTGATGGCAGCATTCGATG	NCBI36
NG_009362.1:g.148398_148416delinsTTGATGGCAGCATTCGATG , LRG_298:g.148398_148416delinsTTGATGGCAGCATTCGATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.440_458delinsTTGATGGCAGCATTCGATG	ENSP00000483569.2:p.Phe147=
ENST00000635816.2:c.440_458delinsTTGATGGCAGCATTCGATG	ENSP00000489707.1:p.Phe147=
ENST00000636056.2:c.440_458delinsTTGATGGCAGCATTCGATG	ENSP00000490273.1:p.Phe147=
ENST00000372037.8:c.440_458delinsTTGATGGCAGCATTCGATG MANE Select	ENSP00000361107.2:p.Phe147=
ENST00000635816.1:c.440_458delinsTTGATGGCAGCATTCGATG	ENSP00000489707.1:p.Phe147=
ENST00000636056.1:c.440_458delinsTTGATGGCAGCATTCGATG	ENSP00000490273.1:p.Phe147=
ENST00000638429.1:c.440_458delinsTTGATGGCAGCATTCGATG	ENSP00000492290.1:p.Phe147=
ENST00000372037.7:c.440_458delinsTTGATGGCAGCATTCGATG	ENSP00000361107.1:p.Phe147=
NM_004329.2:c.440_458delinsTTGATGGCAGCATTCGATG , LRG_298t1:c.440_458delinsTTGATGGCAGCATTCGATG	NP_004320.2:p.Phe147=
XM_011540103.1:c.440_458delinsTTGATGGCAGCATTCGATG	XP_011538405.1:p.Phe147=
XM_011540104.1:c.440_458delinsTTGATGGCAGCATTCGATG	XP_011538406.1:p.Phe147=
XM_011540103.2:c.440_458delinsTTGATGGCAGCATTCGATG	XP_011538405.1:p.Phe147=
XM_011540104.2:c.440_458delinsTTGATGGCAGCATTCGATG	XP_011538406.1:p.Phe147=
NM_004329.3:c.440_458delinsTTGATGGCAGCATTCGATG MANE Select	NP_004320.2:p.Phe147=