Canonical Allele Identifier: CA353504

Gene: BMPR1A

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86892182_86892185dup , CM000672.2:g.86892182_86892185dup	GRCh38
NC_000010.10:g.88651939_88651942dup , CM000672.1:g.88651939_88651942dup	GRCh37
NC_000010.9:g.88641919_88641922dup	NCBI36
NG_009362.1:g.140544_140547dup , LRG_298:g.140544_140547dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.286_289dup	ENSP00000483569.2:p.Ala97ValfsTer9
ENST00000635816.2:c.286_289dup	ENSP00000489707.1:p.Ala97ValfsTer9
ENST00000636056.2:c.286_289dup	ENSP00000490273.1:p.Ala97ValfsTer9
ENST00000372037.8:c.286_289dup MANE Select	ENSP00000361107.2:p.Ala97ValfsTer9
ENST00000635816.1:c.286_289dup	ENSP00000489707.1:p.Ala97ValfsTer9
ENST00000636056.1:c.286_289dup	ENSP00000490273.1:p.Ala97ValfsTer9
ENST00000638429.1:c.286_289dup	ENSP00000492290.1:p.Ala97ValfsTer9
ENST00000372037.7:c.286_289dup	ENSP00000361107.1:p.Ala97ValfsTer9
NM_004329.2:c.286_289dup , LRG_298t1:c.286_289dup	NP_004320.2:p.Ala97ValfsTer9
XM_011540103.1:c.286_289dup	XP_011538405.1:p.Ala97ValfsTer9
XM_011540104.1:c.286_289dup	XP_011538406.1:p.Ala97ValfsTer9
XM_011540103.2:c.286_289dup	XP_011538405.1:p.Ala97ValfsTer9
XM_011540104.2:c.286_289dup	XP_011538406.1:p.Ala97ValfsTer9
NM_004329.3:c.286_289dup MANE Select	NP_004320.2:p.Ala97ValfsTer9