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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:
CA1933118101
Gene: CALHM1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.103454037_103454040delinsTTCC , CM000672.2:g.103454037_103454040delinsTTCC
GRCh38
NC_000010.10:g.105213794_105213797delinsTTCC , CM000672.1:g.105213794_105213797delinsTTCC
GRCh37
NC_000010.9:g.105203784_105203787delinsTTCC
NCBI36
NG_016855.1:g.9852_9855delinsGGAA
Transcript Alleles
HGVS
Amino-acid change
ENST00000329905.6:c.*1222_*1225delinsGGAA
MANE Select
ENSP00000329926.6:n.*1222_*1225delinsGGAA...
ENST00000329905.5:c.*1222_*1225delinsGGAA
ENSP00000329926.5:n.*1222_*1225delinsGGAA...
NM_001001412.3:c.*1222_*1225delinsGGAA
NP_001001412.3:n.*1222_*1225delinsGGAA
NM_001001412.4:c.*1222_*1225delinsGGAA
MANE Select
NP_001001412.3:n.*1222_*1225delinsGGAA
Search 100 bp 5'
Search 100 bp 3'