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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:
CA1728546622
Gene: BAIAP2L1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1802333195
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.98363991del , CM000669.2:g.98363991del
GRCh38
NC_000007.13:g.97993303del , CM000669.1:g.97993303del
GRCh37
NC_000007.12:g.97831239del
NCBI36
NG_013090.1:g.42125del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000005260.9:c.52-1559del
MANE Select
ENSP00000005260.8:n.52-1559del
ENST00000005260.8:c.52-1559del
ENSP00000005260.8:n.52-1559del
ENST00000462558.5:n.268-1559del
ENST00000479789.1:n.358-1559del
NM_018842.4:c.52-1559del
NP_061330.2:n.52-1559del
NM_018842.5:c.52-1559del
MANE Select
NP_061330.2:n.52-1559del
Search 100 bp 5'
Search 100 bp 3'