Canonical Allele Identifier: CA10416566
Gene: BMP15 HGNC NCBI

Linked Data

ClinVar Variation Id: 632053
ClinVar RCV Id: RCV000778898
dbSNP Id: rs782784547
ExAC: X:50659021 AG / A
gnomAD v2: X-50659021-AG-A
gnomAD v3: X-50916021-AG-A
gnomAD v4: X-50916021-AG-A
MyVariant Identifiers: chrX:g.50659022del (hg19) chrX:g.50916022del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50916024del , CM000685.2:g.50916024del GRCh38
NC_000023.10:g.50659024del , CM000685.1:g.50659024del GRCh37
NC_000023.9:g.50675764del NCBI36
NG_012894.1:g.10241del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.596del MANE Select ENSP00000252677.3:p.Gly199AspfsTer?
ENST00000252677.3:c.596del ENSP00000252677.3:p.Gly199AspfsTer?
NM_005448.2:c.596del MANE Select NP_005439.2:p.Gly199AspfsTer?
Search 100 bp 5'
Search 100 bp 3'