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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
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Canonical Allele Identifier:
CA2741670583
Gene: MMP9
HGNC
NCBI
SLC12A5-AS1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.46016321_46016324del , CM000682.2:g.46016321_46016324del
GRCh38
NC_000020.10:g.44644960_44644963del , CM000682.1:g.44644960_44644963del
GRCh37
NC_000020.9:g.44078367_44078370del
NCBI36
NG_011468.1:g.12414_12417del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000372330.3:c.2077_2080del
(MMP9)
MANE Select
ENSP00000361405.3:p.Gln693TrpfsTer4
NM_004994.2:c.2077_2080del
(MMP9)
NP_004985.2:p.Gln693TrpfsTer4
NR_147699.1:n.669-1536_669-1533del
(SLC12A5-AS1)
NM_004994.3:c.2077_2080del
(MMP9)
MANE Select
NP_004985.2:p.Gln693TrpfsTer4
Search 100 bp 5'
Search 100 bp 3'