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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:
CA2816515264
Gene: MMP9
HGNC
NCBI
SLC12A5-AS1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.46016236_46016239del , CM000682.2:g.46016236_46016239del
GRCh38
NC_000020.10:g.44644875_44644878del , CM000682.1:g.44644875_44644878del
GRCh37
NC_000020.9:g.44078282_44078285del
NCBI36
NG_011468.1:g.12329_12332del
Transcript Alleles
HGVS
Amino-acid change
ENST00000372330.3:c.2006-14_2006-11del
(MMP9)
MANE Select
ENSP00000361405.3:n.2006-14_2006-11del
NM_004994.2:c.2006-14_2006-11del
(MMP9)
NP_004985.2:n.2006-14_2006-11del
NR_147699.1:n.669-1445_669-1442del
(SLC12A5-AS1)
NM_004994.3:c.2006-14_2006-11del
(MMP9)
MANE Select
NP_004985.2:n.2006-14_2006-11del
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