Canonical Allele Identifier: CA2573145682

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 1346554
• ClinVar RCV Id: RCV002030073 ; RCV002324218
• dbSNP Id: rs2133453116

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86899787_86899791del , CM000672.2:g.86899787_86899791del	GRCh38
NC_000010.10:g.88659544_88659548del , CM000672.1:g.88659544_88659548del	GRCh37
NC_000010.9:g.88649524_88649528del	NCBI36
NG_009362.1:g.148149_148153del , LRG_298:g.148149_148153del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.334-7_334-3del	ENSP00000483569.2:n.334-7_334-3del
ENST00000635816.2:c.334-7_334-3del	ENSP00000489707.1:n.334-7_334-3del
ENST00000636056.2:c.334-7_334-3del	ENSP00000490273.1:n.334-7_334-3del
ENST00000372037.8:c.334-7_334-3del MANE Select	ENSP00000361107.2:n.334-7_334-3del
ENST00000635816.1:c.334-7_334-3del	ENSP00000489707.1:n.334-7_334-3del
ENST00000636056.1:c.334-7_334-3del	ENSP00000490273.1:n.334-7_334-3del
ENST00000638429.1:c.334-7_334-3del	ENSP00000492290.1:n.334-7_334-3del
ENST00000372037.7:c.334-7_334-3del	ENSP00000361107.1:n.334-7_334-3del
NM_004329.2:c.334-7_334-3del , LRG_298t1:c.334-7_334-3del	NP_004320.2:n.334-7_334-3del
XM_011540103.1:c.334-7_334-3del	XP_011538405.1:n.334-7_334-3del
XM_011540104.1:c.334-7_334-3del	XP_011538406.1:n.334-7_334-3del
XM_011540103.2:c.334-7_334-3del	XP_011538405.1:n.334-7_334-3del
XM_011540104.2:c.334-7_334-3del	XP_011538406.1:n.334-7_334-3del
NM_004329.3:c.334-7_334-3del MANE Select	NP_004320.2:n.334-7_334-3del