Canonical Allele Identifier: CA2580082115

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 1983329
• ClinVar RCV Id: RCV002795255
• gnomAD v4: 10-86917342-TTCAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86917346_86917349del , CM000672.2:g.86917346_86917349del	GRCh38
NC_000010.10:g.88677103_88677106del , CM000672.1:g.88677103_88677106del	GRCh37
NC_000010.9:g.88667083_88667086del	NCBI36
NG_009362.1:g.165708_165711del , LRG_298:g.165708_165711del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.868+20_868+23del	ENSP00000483569.2:n.868+20_868+23del
ENST00000635816.2:c.868+20_868+23del	ENSP00000489707.1:n.868+20_868+23del
ENST00000636056.2:c.868+20_868+23del	ENSP00000490273.1:n.868+20_868+23del
ENST00000372037.8:c.868+20_868+23del MANE Select	ENSP00000361107.2:n.868+20_868+23del
ENST00000635816.1:c.868+20_868+23del	ENSP00000489707.1:n.868+20_868+23del
ENST00000636056.1:c.868+20_868+23del	ENSP00000490273.1:n.868+20_868+23del
ENST00000638429.1:c.868+20_868+23del	ENSP00000492290.1:n.868+20_868+23del
ENST00000372037.7:c.868+20_868+23del	ENSP00000361107.1:n.868+20_868+23del
NM_004329.2:c.868+20_868+23del , LRG_298t1:c.868+20_868+23del	NP_004320.2:n.868+20_868+23del
XM_011540103.1:c.868+20_868+23del	XP_011538405.1:n.868+20_868+23del
XM_011540104.1:c.868+20_868+23del	XP_011538406.1:n.868+20_868+23del
XM_011540103.2:c.868+20_868+23del	XP_011538405.1:n.868+20_868+23del
XM_011540104.2:c.868+20_868+23del	XP_011538406.1:n.868+20_868+23del
NM_004329.3:c.868+20_868+23del MANE Select	NP_004320.2:n.868+20_868+23del