Canonical Allele Identifier: CA891842481

Gene: BMPR1A

Linked Data

• ClinVar Variation Id: 581321
• ClinVar RCV Id: RCV000705111 ; RCV003478444
• dbSNP Id: rs1564714804
• MyVariant Identifiers: chr10:g.88649884_88649885del (hg19) ; chr10:g.86890127_86890128del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86890127_86890128del , CM000672.2:g.86890127_86890128del	GRCh38
NC_000010.10:g.88649884_88649885del , CM000672.1:g.88649884_88649885del	GRCh37
NC_000010.9:g.88639864_88639865del	NCBI36
NG_009362.1:g.138489_138490del , LRG_298:g.138489_138490del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480152.3:c.133_134del	ENSP00000483569.2:p.Glu45LysfsTer25
ENST00000635816.2:c.133_134del	ENSP00000489707.1:p.Glu45LysfsTer25
ENST00000636056.2:c.133_134del	ENSP00000490273.1:p.Glu45LysfsTer25
ENST00000372037.8:c.133_134del MANE Select	ENSP00000361107.2:p.Glu45LysfsTer25
ENST00000635816.1:c.133_134del	ENSP00000489707.1:p.Glu45LysfsTer25
ENST00000636056.1:c.133_134del	ENSP00000490273.1:p.Glu45LysfsTer25
ENST00000638429.1:c.133_134del	ENSP00000492290.1:p.Glu45LysfsTer25
ENST00000372037.7:c.133_134del	ENSP00000361107.1:p.Glu45LysfsTer25
NM_004329.2:c.133_134del , LRG_298t1:c.133_134del	NP_004320.2:p.Glu45LysfsTer25
XM_011540103.1:c.133_134del	XP_011538405.1:p.Glu45LysfsTer25
XM_011540104.1:c.133_134del	XP_011538406.1:p.Glu45LysfsTer25
XM_011540103.2:c.133_134del	XP_011538405.1:p.Glu45LysfsTer25
XM_011540104.2:c.133_134del	XP_011538406.1:p.Glu45LysfsTer25
NM_004329.3:c.133_134del MANE Select	NP_004320.2:p.Glu45LysfsTer25