Canonical Allele Identifier: CA10416601

Gene: BMP15

Linked Data

• ClinVar Variation Id: 259775
• ClinVar RCV Id: RCV000249915 ; RCV000374288 ; RCV001711704
• dbSNP Id: rs371124071
• ExAC: X:50659210 C / CTCT
• gnomAD v2: X-50659210-C-CTCT
• gnomAD v3: X-50916210-C-CTCT
• gnomAD v4: X-50916210-C-CTCT
• COSMIC: COSM1683720
• MyVariant Identifiers: chrX:g.50659214_50659216dupTCT (hg19) ; chrX:g.50659210_50659211insTCT (hg19) ; chrX:g.50916214_50916216dupTCT (hg38) ; chrX:g.50916210_50916211insTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50916214_50916216dup , CM000685.2:g.50916214_50916216dup	GRCh38
NC_000023.10:g.50659214_50659216dup , CM000685.1:g.50659214_50659216dup	GRCh37
NC_000023.9:g.50675954_50675956dup	NCBI36
NG_012894.1:g.10431_10433dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252677.4:c.786_788dup MANE Select	ENSP00000252677.3:p.Leu263_Arg264insLeu
ENST00000252677.3:c.786_788dup	ENSP00000252677.3:p.Leu263_Arg264insLeu
NM_005448.2:c.786_788dup MANE Select	NP_005439.2:p.Leu263_Arg264insLeu