Canonical Allele Identifier: CA2580082084

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 2450270
• ClinVar RCV Id: RCV003176817

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86892122_86892148dup , CM000672.2:g.86892122_86892148dup	GRCh38
NC_000010.10:g.88651879_88651905dup , CM000672.1:g.88651879_88651905dup	GRCh37
NC_000010.9:g.88641859_88641885dup	NCBI36
NG_009362.1:g.140484_140510dup , LRG_298:g.140484_140510dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.231-5_252dup
ENST00000635816.2:c.231-5_252dup
ENST00000636056.2:c.231-5_252dup
ENST00000372037.8:c.231-5_252dup
ENST00000635816.1:c.231-5_252dup
ENST00000636056.1:c.231-5_252dup
ENST00000638429.1:c.231-5_252dup
ENST00000372037.7:c.231-5_252dup
NM_004329.2:c.231-5_252dup , LRG_298t1:c.231-5_252dup
XM_011540103.1:c.231-5_252dup
XM_011540104.1:c.231-5_252dup
XM_011540103.2:c.231-5_252dup
XM_011540104.2:c.231-5_252dup
NM_004329.3:c.231-5_252dup