Canonical Allele Identifier: CA2740097932
Gene: BMP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.53950700_53950722del , CM000676.2:g.53950700_53950722del GRCh38
NC_000014.8:g.54417418_54417440del , CM000676.1:g.54417418_54417440del GRCh37
NC_000014.7:g.53487168_53487190del NCBI36
NG_009215.1:g.11117_11139del

Transcript Alleles

HGVS Amino-acid change
ENST00000245451.9:c.539_561del MANE Select ENSP00000245451.4:p.Ile180SerfsTer29
ENST00000245451.8:c.539_561del ENSP00000245451.4:p.Ile180SerfsTer29
ENST00000417573.5:c.539_561del ENSP00000394165.1:p.Ile180SerfsTer29
ENST00000558961.1:c.397_419del ENSP00000453691.1:n.397_419del
ENST00000558984.1:c.539_561del ENSP00000454134.1:p.Ile180SerfsTer29
ENST00000559087.5:c.539_561del ENSP00000453485.1:p.Ile180SerfsTer29
ENST00000559501.1:c.350_372del ENSP00000453365.1:p.Ile117SerfsTer29
NM_001202.3:c.539_561del NP_001193.2:p.Ile180SerfsTer29
NM_130850.2:c.539_561del NP_570911.2:p.Ile180SerfsTer29
NM_130851.2:c.539_561del NP_570912.2:p.Ile180SerfsTer29
XM_005268015.3:c.539_561del XP_005268072.1:p.Ile180SerfsTer29
NM_001202.5:c.539_561del NP_001193.2:p.Ile180SerfsTer29
NM_001347912.1:c.680_702del NP_001334841.1:p.Ile227SerfsTer29
NM_001347913.1:c.350_372del NP_001334842.1:p.Ile117SerfsTer29
NM_001347914.1:c.539_561del NP_001334843.1:p.Ile180SerfsTer29
NM_001347915.1:c.350_372del NP_001334844.1:p.Ile117SerfsTer29
NM_001347916.1:c.539_561del NP_001334845.1:p.Ile180SerfsTer29
NM_001347917.1:c.350_372del NP_001334846.1:p.Ile117SerfsTer29
NM_130850.4:c.539_561del NP_570911.2:p.Ile180SerfsTer29
NM_130851.3:c.539_561del NP_570912.2:p.Ile180SerfsTer29
NM_001202.6:c.539_561del MANE Select NP_001193.2:p.Ile180SerfsTer29
NM_130850.5:c.539_561del NP_570911.2:p.Ile180SerfsTer29
NM_001347913.2:c.350_372del NP_001334842.1:p.Ile117SerfsTer29
NM_001347914.2:c.539_561del NP_001334843.1:p.Ile180SerfsTer29
NM_001347915.2:c.350_372del NP_001334844.1:p.Ile117SerfsTer29
NM_130851.4:c.539_561del NP_570912.2:p.Ile180SerfsTer29