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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:
CA9460197
Gene: TMEM91
HGNC
NCBI
Linked Data
dbSNP Id:
rs56368056
ExAC:
19:41860116 GAA / G
gnomAD v2:
19-41860116-GAA-G
gnomAD v3:
19-41354211-GAA-G
gnomAD v4:
19-41354211-GAA-G
MyVariant Identifiers:
chr19:g.41860117_41860118del (hg19)
chr19:g.41354212_41354213del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.41354213_41354214del , CM000681.2:g.41354213_41354214del
GRCh38
NC_000019.9:g.41860118_41860119del , CM000681.1:g.41860118_41860119del
GRCh37
NC_000019.8:g.46551958_46551959del
NCBI36
NG_013091.1:g.14961_14962del
NG_013364.1:g.4714_4715del
Transcript Alleles
HGVS
Amino-acid change
ENST00000539627.5:c.-30+3011_-30+3012del
ENSP00000441900.1:n.-30+3011_-30+3012del
ENST00000604123.5:c.40_41del
ENSP00000474871.1:p.Lys14GlufsTer8
ENST00000604424.1:n.350+3011_350+3012del
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