Canonical Allele Identifier: CA745903140

Gene: BMP7

Linked Data

• dbSNP Id: rs1387163893
• gnomAD v3: 20-57251053-CAG-C
• gnomAD v4: 20-57251053-CAG-C
• MyVariant Identifiers: chr20:g.55826110_55826111del (hg19) ; chr20:g.57251054_57251055del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57251056_57251057del , CM000682.2:g.57251056_57251057del	GRCh38
NC_000020.10:g.55826112_55826113del , CM000682.1:g.55826112_55826113del	GRCh37
NC_000020.9:g.55259519_55259520del	NCBI36
NG_032771.1:g.20597_20598del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395863.8:c.418+14650_418+14651del MANE Select	ENSP00000379204.3:n.418+14650_418+14651del
ENST00000395863.7:c.418+14650_418+14651del	ENSP00000379204.3:n.418+14650_418+14651del
ENST00000395864.7:c.418+14650_418+14651del	ENSP00000379205.3:n.418+14650_418+14651del
ENST00000433911.1:c.74+14650_74+14651del
ENST00000450594.6:c.418+14650_418+14651del	ENSP00000398687.2:n.418+14650_418+14651del
NM_001719.2:c.418+14650_418+14651del	NP_001710.1:n.418+14650_418+14651del
NM_001719.3:c.418+14650_418+14651del MANE Select	NP_001710.1:n.418+14650_418+14651del