Canonical Allele Identifier: CA614278114

Gene: BMP4

Linked Data

• dbSNP Id: rs1465848401
• gnomAD v2: 14-54418653-TTCC-T
• gnomAD v3: 14-53951935-TTCC-T
• gnomAD v4: 14-53951935-TTCC-T
• MyVariant Identifiers: chr14:g.54418654_54418656del (hg19) ; chr14:g.53951936_53951938del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53951945_53951947del , CM000676.2:g.53951945_53951947del	GRCh38
NC_000014.8:g.54418663_54418665del , CM000676.1:g.54418663_54418665del	GRCh37
NC_000014.7:g.53488413_53488415del	NCBI36
NG_009215.1:g.9899_9901del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245451.9:c.285_287del MANE Select	ENSP00000245451.4:p.Glu96del
ENST00000245451.8:c.285_287del	ENSP00000245451.4:p.Glu96del
ENST00000417573.5:c.285_287del	ENSP00000394165.1:p.Glu96del
ENST00000558961.1:c.210_212del	ENSP00000453691.1:p.Glu71del
ENST00000558984.1:c.285_287del	ENSP00000454134.1:p.Glu96del
ENST00000559087.5:c.285_287del	ENSP00000453485.1:p.Glu96del
ENST00000559501.1:c.96_98del	ENSP00000453365.1:p.Glu33del
ENST00000559642.1:c.285_287del	ENSP00000453467.1:p.Glu96del
NM_001202.3:c.285_287del	NP_001193.2:p.Glu96del
NM_130850.2:c.285_287del	NP_570911.2:p.Glu96del
NM_130851.2:c.285_287del	NP_570912.2:p.Glu96del
XM_005268015.3:c.285_287del	XP_005268072.1:p.Glu96del
NM_001202.5:c.285_287del	NP_001193.2:p.Glu96del
NM_001347912.1:c.426_428del	NP_001334841.1:p.Glu143del
NM_001347913.1:c.96_98del	NP_001334842.1:p.Glu33del
NM_001347914.1:c.285_287del	NP_001334843.1:p.Glu96del
NM_001347915.1:c.96_98del	NP_001334844.1:p.Glu33del
NM_001347916.1:c.285_287del	NP_001334845.1:p.Glu96del
NM_001347917.1:c.96_98del	NP_001334846.1:p.Glu33del
NM_130850.4:c.285_287del	NP_570911.2:p.Glu96del
NM_130851.3:c.285_287del	NP_570912.2:p.Glu96del
NM_001202.6:c.285_287del MANE Select	NP_001193.2:p.Glu96del
NM_130850.5:c.285_287del	NP_570911.2:p.Glu96del
NM_001347913.2:c.96_98del	NP_001334842.1:p.Glu33del
NM_001347914.2:c.285_287del	NP_001334843.1:p.Glu96del
NM_001347915.2:c.96_98del	NP_001334844.1:p.Glu33del
NM_130851.4:c.285_287del	NP_570912.2:p.Glu96del