Canonical Allele Identifier: CA2580615537

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 2023070
• ClinVar RCV Id: RCV002875758

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86899904_86899905del , CM000672.2:g.86899904_86899905del	GRCh38
NC_000010.10:g.88659661_88659662del , CM000672.1:g.88659661_88659662del	GRCh37
NC_000010.9:g.88649641_88649642del	NCBI36
NG_009362.1:g.148266_148267del , LRG_298:g.148266_148267del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.430+14_430+15del	ENSP00000483569.2:n.430+14_430+15del
ENST00000635816.2:c.430+14_430+15del	ENSP00000489707.1:n.430+14_430+15del
ENST00000636056.2:c.430+14_430+15del	ENSP00000490273.1:n.430+14_430+15del
ENST00000372037.8:c.430+14_430+15del MANE Select	ENSP00000361107.2:n.430+14_430+15del
ENST00000635816.1:c.430+14_430+15del	ENSP00000489707.1:n.430+14_430+15del
ENST00000636056.1:c.430+14_430+15del	ENSP00000490273.1:n.430+14_430+15del
ENST00000638429.1:c.430+14_430+15del	ENSP00000492290.1:n.430+14_430+15del
ENST00000372037.7:c.430+14_430+15del	ENSP00000361107.1:n.430+14_430+15del
NM_004329.2:c.430+14_430+15del , LRG_298t1:c.430+14_430+15del	NP_004320.2:n.430+14_430+15del
XM_011540103.1:c.430+14_430+15del	XP_011538405.1:n.430+14_430+15del
XM_011540104.1:c.430+14_430+15del	XP_011538406.1:n.430+14_430+15del
XM_011540103.2:c.430+14_430+15del	XP_011538405.1:n.430+14_430+15del
XM_011540104.2:c.430+14_430+15del	XP_011538406.1:n.430+14_430+15del
NM_004329.3:c.430+14_430+15del MANE Select	NP_004320.2:n.430+14_430+15del