Canonical Allele Identifier: CA134541002
Gene: BMP6 HGNC NCBI

Linked Data

dbSNP Id: rs149174921
gnomAD v2: 6-7849645-ACTT-A
gnomAD v3: 6-7849412-ACTT-A
gnomAD v4: 6-7849412-ACTT-A
MyVariant Identifiers: chr6:g.7849646_7849648del (hg19) chr6:g.7849413_7849415del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7849416_7849418del , CM000668.2:g.7849416_7849418del GRCh38
NC_000006.11:g.7849649_7849651del , CM000668.1:g.7849649_7849651del GRCh37
NC_000006.10:g.7794648_7794650del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000283147.7:c.857+4084_857+4086del MANE Select ENSP00000283147.6:n.857+4084_857+4086del
ENST00000283147.6:c.857+4084_857+4086del ENSP00000283147.6:n.857+4084_857+4086del
NM_001718.4:c.857+4084_857+4086del NP_001709.1:n.857+4084_857+4086del
NM_001718.5:c.857+4084_857+4086del NP_001709.1:n.857+4084_857+4086del
NM_001718.6:c.857+4084_857+4086del MANE Select NP_001709.1:n.857+4084_857+4086del
Search 100 bp 5'
Search 100 bp 3'