Canonical Allele Identifier: CA594897275

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 1580942
• ClinVar RCV Id: RCV002094939 ; RCV003478933
• dbSNP Id: rs1447308562
• gnomAD v2: 10-88683338-CTT-C
• gnomAD v4: 10-86923581-CTT-C
• MyVariant Identifiers: chr10:g.88683339_88683340del (hg19) ; chr10:g.86923582_86923583del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86923583_86923584del , CM000672.2:g.86923583_86923584del	GRCh38
NC_000010.10:g.88683340_88683341del , CM000672.1:g.88683340_88683341del	GRCh37
NC_000010.9:g.88673320_88673321del	NCBI36
NG_009362.1:g.171945_171946del , LRG_298:g.171945_171946del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480152.3:c.1474-11_1474-10del	ENSP00000483569.2:n.1474-11_1474-10del
ENST00000635816.2:c.1474-11_1474-10del	ENSP00000489707.1:n.1474-11_1474-10del
ENST00000636056.2:c.1474-11_1474-10del	ENSP00000490273.1:n.1474-11_1474-10del
ENST00000372037.8:c.1474-11_1474-10del MANE Select	ENSP00000361107.2:n.1474-11_1474-10del
ENST00000635816.1:c.1474-11_1474-10del	ENSP00000489707.1:n.1474-11_1474-10del
ENST00000636056.1:c.1474-11_1474-10del	ENSP00000490273.1:n.1474-11_1474-10del
ENST00000638429.1:c.1474-11_1474-10del	ENSP00000492290.1:n.1474-11_1474-10del
ENST00000372037.7:c.1474-11_1474-10del	ENSP00000361107.1:n.1474-11_1474-10del
NM_004329.2:c.1474-11_1474-10del , LRG_298t1:c.1474-11_1474-10del	NP_004320.2:n.1474-11_1474-10del
XM_011540103.1:c.1474-11_1474-10del	XP_011538405.1:n.1474-11_1474-10del
XM_011540104.1:c.1474-11_1474-10del	XP_011538406.1:n.1474-11_1474-10del
XM_011540103.2:c.1474-11_1474-10del	XP_011538405.1:n.1474-11_1474-10del
XM_011540104.2:c.1474-11_1474-10del	XP_011538406.1:n.1474-11_1474-10del
NM_004329.3:c.1474-11_1474-10del MANE Select	NP_004320.2:n.1474-11_1474-10del