Canonical Allele Identifier: CA316818319

Gene: BMP7

Linked Data

• dbSNP Id: rs989863953
• gnomAD v3: 20-57251060-GCT-G
• gnomAD v4: 20-57251060-GCT-G
• MyVariant Identifiers: chr20:g.55826117_55826118del (hg19) ; chr20:g.57251061_57251062del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57251061_57251062del , CM000682.2:g.57251061_57251062del	GRCh38
NC_000020.10:g.55826117_55826118del , CM000682.1:g.55826117_55826118del	GRCh37
NC_000020.9:g.55259524_55259525del	NCBI36
NG_032771.1:g.20590_20591del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395863.8:c.418+14643_418+14644del MANE Select	ENSP00000379204.3:n.418+14643_418+14644del
ENST00000395863.7:c.418+14643_418+14644del	ENSP00000379204.3:n.418+14643_418+14644del
ENST00000395864.7:c.418+14643_418+14644del	ENSP00000379205.3:n.418+14643_418+14644del
ENST00000433911.1:c.74+14643_74+14644del
ENST00000450594.6:c.418+14643_418+14644del	ENSP00000398687.2:n.418+14643_418+14644del
NM_001719.2:c.418+14643_418+14644del	NP_001710.1:n.418+14643_418+14644del
NM_001719.3:c.418+14643_418+14644del MANE Select	NP_001710.1:n.418+14643_418+14644del