Canonical Allele Identifier: CA2573149957

Gene: BMP4

Linked Data

• ClinVar Variation Id: 1458344
• ClinVar RCV Id: RCV001956323
• dbSNP Id: rs2140238013

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53952012_53952021del , CM000676.2:g.53952012_53952021del	GRCh38
NC_000014.8:g.54418730_54418739del , CM000676.1:g.54418730_54418739del	GRCh37
NC_000014.7:g.53488480_53488489del	NCBI36
NG_009215.1:g.9819_9828del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245451.9:c.205_214del MANE Select	ENSP00000245451.4:p.Arg69SerfsTer?
ENST00000245451.8:c.205_214del	ENSP00000245451.4:p.Arg69SerfsTer?
ENST00000417573.5:c.205_214del	ENSP00000394165.1:p.Arg69SerfsTer?
ENST00000558961.1:c.130_139del	ENSP00000453691.1:p.Arg44SerfsTer?
ENST00000558984.1:c.205_214del	ENSP00000454134.1:p.Arg69SerfsTer?
ENST00000559087.5:c.205_214del	ENSP00000453485.1:p.Arg69SerfsTer?
ENST00000559501.1:c.16_25del	ENSP00000453365.1:p.Arg6SerfsTer?
ENST00000559642.1:c.205_214del	ENSP00000453467.1:p.Arg69SerfsTer?
NM_001202.3:c.205_214del	NP_001193.2:p.Arg69SerfsTer?
NM_130850.2:c.205_214del	NP_570911.2:p.Arg69SerfsTer?
NM_130851.2:c.205_214del	NP_570912.2:p.Arg69SerfsTer?
XM_005268015.3:c.205_214del	XP_005268072.1:p.Arg69SerfsTer?
NM_001202.5:c.205_214del	NP_001193.2:p.Arg69SerfsTer?
NM_001347912.1:c.346_355del	NP_001334841.1:p.Arg116SerfsTer?
NM_001347913.1:c.16_25del	NP_001334842.1:p.Arg6SerfsTer?
NM_001347914.1:c.205_214del	NP_001334843.1:p.Arg69SerfsTer?
NM_001347915.1:c.16_25del	NP_001334844.1:p.Arg6SerfsTer?
NM_001347916.1:c.205_214del	NP_001334845.1:p.Arg69SerfsTer?
NM_001347917.1:c.16_25del	NP_001334846.1:p.Arg6SerfsTer?
NM_130850.4:c.205_214del	NP_570911.2:p.Arg69SerfsTer?
NM_130851.3:c.205_214del	NP_570912.2:p.Arg69SerfsTer?
NM_001202.6:c.205_214del MANE Select	NP_001193.2:p.Arg69SerfsTer?
NM_130850.5:c.205_214del	NP_570911.2:p.Arg69SerfsTer?
NM_001347913.2:c.16_25del	NP_001334842.1:p.Arg6SerfsTer?
NM_001347914.2:c.205_214del	NP_001334843.1:p.Arg69SerfsTer?
NM_001347915.2:c.16_25del	NP_001334844.1:p.Arg6SerfsTer?
NM_130851.4:c.205_214del	NP_570912.2:p.Arg69SerfsTer?