Canonical Allele Identifier: CA2573145703

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 1493031
• ClinVar RCV Id: RCV001984060
• dbSNP Id: rs2133623605

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86923585_86923589del , CM000672.2:g.86923585_86923589del	GRCh38
NC_000010.10:g.88683342_88683346del , CM000672.1:g.88683342_88683346del	GRCh37
NC_000010.9:g.88673322_88673326del	NCBI36
NG_009362.1:g.171947_171951del , LRG_298:g.171947_171951del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480152.3:c.1474-9_1474-5del	ENSP00000483569.2:n.1474-9_1474-5del
ENST00000635816.2:c.1474-9_1474-5del	ENSP00000489707.1:n.1474-9_1474-5del
ENST00000636056.2:c.1474-9_1474-5del	ENSP00000490273.1:n.1474-9_1474-5del
ENST00000372037.8:c.1474-9_1474-5del MANE Select	ENSP00000361107.2:n.1474-9_1474-5del
ENST00000635816.1:c.1474-9_1474-5del	ENSP00000489707.1:n.1474-9_1474-5del
ENST00000636056.1:c.1474-9_1474-5del	ENSP00000490273.1:n.1474-9_1474-5del
ENST00000638429.1:c.1474-9_1474-5del	ENSP00000492290.1:n.1474-9_1474-5del
ENST00000372037.7:c.1474-9_1474-5del	ENSP00000361107.1:n.1474-9_1474-5del
NM_004329.2:c.1474-9_1474-5del , LRG_298t1:c.1474-9_1474-5del	NP_004320.2:n.1474-9_1474-5del
XM_011540103.1:c.1474-9_1474-5del	XP_011538405.1:n.1474-9_1474-5del
XM_011540104.1:c.1474-9_1474-5del	XP_011538406.1:n.1474-9_1474-5del
XM_011540103.2:c.1474-9_1474-5del	XP_011538405.1:n.1474-9_1474-5del
XM_011540104.2:c.1474-9_1474-5del	XP_011538406.1:n.1474-9_1474-5del
NM_004329.3:c.1474-9_1474-5del MANE Select	NP_004320.2:n.1474-9_1474-5del