Canonical Allele Identifier: CA650674314
Gene: BMP6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7849447del , CM000668.2:g.7849447del GRCh38
NC_000006.11:g.7849680del , CM000668.1:g.7849680del GRCh37
NC_000006.10:g.7794679del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000283147.7:c.857+4115del MANE Select ENSP00000283147.6:n.857+4115del
ENST00000283147.6:c.857+4115del ENSP00000283147.6:n.857+4115del
NM_001718.4:c.857+4115del NP_001709.1:n.857+4115del
NM_001718.5:c.857+4115del NP_001709.1:n.857+4115del
NM_001718.6:c.857+4115del MANE Select NP_001709.1:n.857+4115del