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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:
CA1100778481
Gene: GCK
HGNC
NCBI
Linked Data
dbSNP Id:
rs2096325048
gnomAD v3:
7-44189478-GGGCCTGT-G
gnomAD v4:
7-44189478-GGGCCTGT-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.44189481_44189487del , CM000669.2:g.44189481_44189487del
GRCh38
NC_000007.13:g.44229080_44229086del , CM000669.1:g.44229080_44229086del
GRCh37
NC_000007.12:g.44195605_44195611del
NCBI36
NG_008847.1:g.4939_4945del
NG_008847.2:g.13686_13692del
Transcript Alleles
HGVS
Amino-acid change
ENST00000476008.1:n.480+8206_480+8212del
Search 100 bp 5'
Search 100 bp 3'