Canonical Allele Identifier: CA2582342703

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 2583667
• ClinVar RCV Id: RCV003334589

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86890175_86890176dup , CM000672.2:g.86890175_86890176dup	GRCh38
NC_000010.10:g.88649932_88649933dup , CM000672.1:g.88649932_88649933dup	GRCh37
NC_000010.9:g.88639912_88639913dup	NCBI36
NG_009362.1:g.138537_138538dup , LRG_298:g.138537_138538dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000480152.3:c.181_182dup	ENSP00000483569.2:p.Tyr62AlafsTer17
ENST00000635816.2:c.181_182dup	ENSP00000489707.1:p.Tyr62AlafsTer17
ENST00000636056.2:c.181_182dup	ENSP00000490273.1:p.Tyr62AlafsTer17
ENST00000372037.8:c.181_182dup MANE Select	ENSP00000361107.2:p.Tyr62AlafsTer17
ENST00000635816.1:c.181_182dup	ENSP00000489707.1:p.Tyr62AlafsTer17
ENST00000636056.1:c.181_182dup	ENSP00000490273.1:p.Tyr62AlafsTer17
ENST00000638429.1:c.181_182dup	ENSP00000492290.1:p.Tyr62AlafsTer17
ENST00000372037.7:c.181_182dup	ENSP00000361107.1:p.Tyr62AlafsTer17
NM_004329.2:c.181_182dup , LRG_298t1:c.181_182dup	NP_004320.2:p.Tyr62AlafsTer17
XM_011540103.1:c.181_182dup	XP_011538405.1:p.Tyr62AlafsTer17
XM_011540104.1:c.181_182dup	XP_011538406.1:p.Tyr62AlafsTer17
XM_011540103.2:c.181_182dup	XP_011538405.1:p.Tyr62AlafsTer17
XM_011540104.2:c.181_182dup	XP_011538406.1:p.Tyr62AlafsTer17
NM_004329.3:c.181_182dup MANE Select	NP_004320.2:p.Tyr62AlafsTer17