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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:
CA2576716952
Gene: INSL3
HGNC
NCBI
Linked Data
gnomAD v4:
19-17816784-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.17816786del , CM000681.2:g.17816786del
GRCh38
NC_000019.9:g.17927595del , CM000681.1:g.17927595del
GRCh37
NC_000019.8:g.17788595del
NCBI36
NG_012092.1:g.9727del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000317306.8:c.*69del
MANE Select
ENSP00000321724.6:n.*69del
ENST00000317306.7:c.*69del
ENSP00000321724.6:n.*69del
ENST00000379695.5:c.*86del
ENSP00000369017.4:n.*86del
ENST00000598577.1:c.486del
NM_001265587.1:c.*86del
NP_001252516.1:n.*86del
NM_005543.3:c.*69del
NP_005534.2:n.*69del
NM_001265587.2:c.*86del
NP_001252516.1:n.*86del
NM_005543.4:c.*69del
MANE Select
NP_005534.2:n.*69del
Search 100 bp 5'
Search 100 bp 3'