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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:
CA2293845606
Gene: DSG2
HGNC
NCBI
Linked Data
dbSNP Id:
rs2072992512
gnomAD v4:
18-31498157-G-GGGGGGAGGCCGGGGCCA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.31498161_31498177dup , CM000680.2:g.31498161_31498177dup
GRCh38
NC_000018.9:g.29078124_29078140dup , CM000680.1:g.29078124_29078140dup
GRCh37
NC_000018.8:g.27332122_27332138dup
NCBI36
NG_007072.3:g.4920_4936dup , LRG_397:g.4920_4936dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000261590.12:c.-91_-75dup
ENSP00000261590.8:n.-91_-75dup
NM_001943.3:c.-91_-75dup , LRG_397t1:c.-91_-75dup
NP_001934.2:n.-91_-75dup
NM_001943.4:c.-91_-75dup
NP_001934.2:n.-91_-75dup
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