Canonical Allele Identifier: CA930828566

Gene: BMPR1A

Linked Data

• dbSNP Id: rs1842919231
• gnomAD v3: 10-86876124-TAA-T
• gnomAD v4: 10-86876124-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86876128_86876129del , CM000672.2:g.86876128_86876129del	GRCh38
NC_000010.10:g.88635885_88635886del , CM000672.1:g.88635885_88635886del	GRCh37
NC_000010.9:g.88625865_88625866del	NCBI36
NG_009362.1:g.124490_124491del , LRG_298:g.124490_124491del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.67+43_67+44del	ENSP00000483569.2:n.67+43_67+44del
ENST00000635816.2:c.67+43_67+44del	ENSP00000489707.1:n.67+43_67+44del
ENST00000636056.2:c.67+43_67+44del	ENSP00000490273.1:n.67+43_67+44del
ENST00000372037.8:c.67+43_67+44del MANE Select	ENSP00000361107.2:n.67+43_67+44del
ENST00000635816.1:c.67+43_67+44del	ENSP00000489707.1:n.67+43_67+44del
ENST00000636056.1:c.67+43_67+44del	ENSP00000490273.1:n.67+43_67+44del
ENST00000638429.1:c.67+43_67+44del	ENSP00000492290.1:n.67+43_67+44del
ENST00000372037.7:c.67+43_67+44del	ENSP00000361107.1:n.67+43_67+44del
ENST00000480152.2:c.67+43_67+44del	ENSP00000483569.1:n.67+43_67+44del
NM_004329.2:c.67+43_67+44del , LRG_298t1:c.67+43_67+44del	NP_004320.2:n.67+43_67+44del
XM_011540103.1:c.67+43_67+44del	XP_011538405.1:n.67+43_67+44del
XM_011540104.1:c.67+43_67+44del	XP_011538406.1:n.67+43_67+44del
XM_011540103.2:c.67+43_67+44del	XP_011538405.1:n.67+43_67+44del
XM_011540104.2:c.67+43_67+44del	XP_011538406.1:n.67+43_67+44del
NM_004329.3:c.67+43_67+44del MANE Select	NP_004320.2:n.67+43_67+44del