Canonical Allele Identifier: CA669471295

Gene: BMPR1A

Linked Data

• dbSNP Id: rs1162950296
• gnomAD v3: 10-86890481-GT-G
• gnomAD v4: 10-86890481-GT-G
• MyVariant Identifiers: chr10:g.88650239del (hg19) ; chr10:g.86890482del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86890486del , CM000672.2:g.86890486del	GRCh38
NC_000010.10:g.88650243del , CM000672.1:g.88650243del	GRCh37
NC_000010.9:g.88640223del	NCBI36
NG_009362.1:g.138848del , LRG_298:g.138848del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.230+262del	ENSP00000483569.2:n.230+262del
ENST00000635816.2:c.230+262del	ENSP00000489707.1:n.230+262del
ENST00000636056.2:c.230+262del	ENSP00000490273.1:n.230+262del
ENST00000372037.8:c.230+262del MANE Select	ENSP00000361107.2:n.230+262del
ENST00000635816.1:c.230+262del	ENSP00000489707.1:n.230+262del
ENST00000636056.1:c.230+262del	ENSP00000490273.1:n.230+262del
ENST00000638429.1:c.230+262del	ENSP00000492290.1:n.230+262del
ENST00000372037.7:c.230+262del	ENSP00000361107.1:n.230+262del
NM_004329.2:c.230+262del , LRG_298t1:c.230+262del	NP_004320.2:n.230+262del
XM_011540103.1:c.230+262del	XP_011538405.1:n.230+262del
XM_011540104.1:c.230+262del	XP_011538406.1:n.230+262del
XM_011540103.2:c.230+262del	XP_011538405.1:n.230+262del
XM_011540104.2:c.230+262del	XP_011538406.1:n.230+262del
NM_004329.3:c.230+262del MANE Select	NP_004320.2:n.230+262del