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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:
CA2615732086
Gene: MMP12
HGNC
NCBI
Linked Data
gnomAD v4:
11-102867256-GA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.102867260del , CM000673.2:g.102867260del
GRCh38
NC_000011.9:g.102737991del , CM000673.1:g.102737991del
GRCh37
NC_000011.8:g.102243201del
NCBI36
NG_032936.1:g.12778del
Transcript Alleles
HGVS
Amino-acid change
ENST00000571244.3:c.911+13del
MANE Select
ENSP00000458585.1:n.911+13del
ENST00000571244.2:c.911+13del
ENSP00000458585.1:n.911+13del
NM_002426.4:c.911+13del
NP_002417.2:n.911+13del
NM_002426.5:c.911+13del
NP_002417.2:n.911+13del
NM_002426.6:c.911+13del
MANE Select
NP_002417.2:n.911+13del
Search 100 bp 5'
Search 100 bp 3'