Canonical Allele Identifier: CA134540972
Gene: BMP6 HGNC NCBI

Linked Data

dbSNP Id: rs893935166
gnomAD v2: 6-7849344-GA-G
gnomAD v3: 6-7849111-GA-G
gnomAD v4: 6-7849111-GA-G
MyVariant Identifiers: chr6:g.7849345del (hg19) chr6:g.7849112del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7849112del , CM000668.2:g.7849112del GRCh38
NC_000006.11:g.7849345del , CM000668.1:g.7849345del GRCh37
NC_000006.10:g.7794344del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000283147.7:c.857+3780del MANE Select ENSP00000283147.6:n.857+3780del
ENST00000283147.6:c.857+3780del ENSP00000283147.6:n.857+3780del
NM_001718.4:c.857+3780del NP_001709.1:n.857+3780del
NM_001718.5:c.857+3780del NP_001709.1:n.857+3780del
NM_001718.6:c.857+3780del MANE Select NP_001709.1:n.857+3780del
Search 100 bp 5'
Search 100 bp 3'