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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
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Canonical Allele Identifier:
CA1616492369
Gene: GPLD1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.24491106_24491108delinsCAA , CM000668.2:g.24491106_24491108delinsCAA
GRCh38
NC_000006.11:g.24491334_24491336delinsCAA , CM000668.1:g.24491334_24491336delinsCAA
GRCh37
NC_000006.10:g.24599313_24599315delinsCAA
NCBI36
NG_008161.1:g.1138_1140delinsCAA
NG_029888.2:g.3515_3517delinsTTG
Transcript Alleles
HGVS
Amino-acid change
ENST00000474784.5:n.240-1611_240-1609delinsTTG
ENST00000475417.1:n.234-1611_234-1609delinsTTG
XM_011514509.1:c.45-1611_45-1609delinsTTG
XP_011512811.1:n.45-1611_45-1609delinsTTG
XM_017010753.2:c.45-1611_45-1609delinsTTG
XP_016866242.1:n.45-1611_45-1609delinsTTG
XR_002956277.1:n.267-1611_267-1609delinsTTG
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