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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2579612653
Gene: BMP15
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.50915867_50915870del , CM000685.2:g.50915867_50915870del
GRCh38
NC_000023.10:g.50658867_50658870del , CM000685.1:g.50658867_50658870del
GRCh37
NC_000023.9:g.50675607_50675610del
NCBI36
NG_012894.1:g.10084_10087del
Transcript Alleles
HGVS
Amino-acid change
ENST00000252677.4:c.439_442del
MANE Select
ENSP00000252677.3:p.Asn147SerfsTer29
ENST00000252677.3:c.439_442del
ENSP00000252677.3:p.Asn147SerfsTer29
NM_005448.2:c.439_442del
MANE Select
NP_005439.2:p.Asn147SerfsTer29
Search 100 bp 5'
Search 100 bp 3'