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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:
CA2583418993
Gene: INSL3
HGNC
NCBI
Linked Data
gnomAD v4:
19-17816787-C-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.17816787C>A , CM000681.2:g.17816787C>A
GRCh38
NC_000019.9:g.17927596C>A , CM000681.1:g.17927596C>A
GRCh37
NC_000019.8:g.17788596C>A
NCBI36
NG_012092.1:g.9725G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000317306.8:c.*67G>T
MANE Select
ENSP00000321724.6:n.*67G>T
ENST00000317306.7:c.*67G>T
ENSP00000321724.6:n.*67G>T
ENST00000379695.5:c.*84G>T
ENSP00000369017.4:n.*84G>T
ENST00000598577.1:c.484G>T
NM_001265587.1:c.*84G>T
NP_001252516.1:n.*84G>T
NM_005543.3:c.*67G>T
NP_005534.2:n.*67G>T
NM_001265587.2:c.*84G>T
NP_001252516.1:n.*84G>T
NM_005543.4:c.*67G>T
MANE Select
NP_005534.2:n.*67G>T
Search 100 bp 5'
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