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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:
CA2577278269
Gene: CHRNG
HGNC
NCBI
Linked Data
gnomAD v4:
2-232541325-CG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.232541330del , CM000664.2:g.232541330del
GRCh38
NC_000002.11:g.233406040del , CM000664.1:g.233406040del
GRCh37
NC_000002.10:g.233114284del
NCBI36
NG_012954.1:g.6604del
NG_012954.2:g.6639del
Transcript Alleles
HGVS
Amino-acid change
ENST00000651502.1:c.351-44del
MANE Select
ENSP00000498757.1:n.351-44del
ENST00000389492.3:c.350+619del
ENSP00000374143.3:n.350+619del
ENST00000389494.7:c.351-44del
ENSP00000374145.3:n.351-44del
ENST00000485094.1:n.372-44del
NM_005199.4:c.351-44del
NP_005190.4:n.351-44del
NM_005199.5:c.351-44del
MANE Select
NP_005190.4:n.351-44del
Search 100 bp 5'
Search 100 bp 3'