Canonical Allele Identifier: CA2580613688

Gene: BMP4

Linked Data

• ClinVar Variation Id: 17700
• ClinVar RCV Id: RCV000019274
• dbSNP Id: rs2140237954

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53951998_53951999del , CM000676.2:g.53951998_53951999del	GRCh38
NC_000014.8:g.54418716_54418717del , CM000676.1:g.54418716_54418717del	GRCh37
NC_000014.7:g.53488466_53488467del	NCBI36
NG_009215.1:g.9840_9841del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245451.9:c.226_227del MANE Select	ENSP00000245451.4:p.Ser76CysfsTer29
ENST00000245451.8:c.226_227del	ENSP00000245451.4:p.Ser76CysfsTer29
ENST00000417573.5:c.226_227del	ENSP00000394165.1:p.Ser76CysfsTer29
ENST00000558961.1:c.151_152del	ENSP00000453691.1:p.Ser51CysfsTer29
ENST00000558984.1:c.226_227del	ENSP00000454134.1:p.Ser76CysfsTer29
ENST00000559087.5:c.226_227del	ENSP00000453485.1:p.Ser76CysfsTer29
ENST00000559501.1:c.37_38del	ENSP00000453365.1:p.Ser13CysfsTer29
ENST00000559642.1:c.226_227del	ENSP00000453467.1:p.Ser76CysfsTer29
NM_001202.3:c.226_227del	NP_001193.2:p.Ser76CysfsTer29
NM_130850.2:c.226_227del	NP_570911.2:p.Ser76CysfsTer29
NM_130851.2:c.226_227del	NP_570912.2:p.Ser76CysfsTer29
XM_005268015.3:c.226_227del	XP_005268072.1:p.Ser76CysfsTer29
NM_001202.5:c.226_227del	NP_001193.2:p.Ser76CysfsTer29
NM_001347912.1:c.367_368del	NP_001334841.1:p.Ser123CysfsTer29
NM_001347913.1:c.37_38del	NP_001334842.1:p.Ser13CysfsTer29
NM_001347914.1:c.226_227del	NP_001334843.1:p.Ser76CysfsTer29
NM_001347915.1:c.37_38del	NP_001334844.1:p.Ser13CysfsTer29
NM_001347916.1:c.226_227del	NP_001334845.1:p.Ser76CysfsTer29
NM_001347917.1:c.37_38del	NP_001334846.1:p.Ser13CysfsTer29
NM_130850.4:c.226_227del	NP_570911.2:p.Ser76CysfsTer29
NM_130851.3:c.226_227del	NP_570912.2:p.Ser76CysfsTer29
NM_001202.6:c.226_227del MANE Select	NP_001193.2:p.Ser76CysfsTer29
NM_130850.5:c.226_227del	NP_570911.2:p.Ser76CysfsTer29
NM_001347913.2:c.37_38del	NP_001334842.1:p.Ser13CysfsTer29
NM_001347914.2:c.226_227del	NP_001334843.1:p.Ser76CysfsTer29
NM_001347915.2:c.37_38del	NP_001334844.1:p.Ser13CysfsTer29
NM_130851.4:c.226_227del	NP_570912.2:p.Ser76CysfsTer29