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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:
CA633167810
Gene: TMEM91
HGNC
NCBI
Linked Data
dbSNP Id:
rs1345215472
gnomAD v2:
19-41860100-GGTGTGGGTCACCAGAGAAA-G
gnomAD v4:
19-41354195-GGTGTGGGTCACCAGAGAAA-G
MyVariant Identifiers:
chr19:g.41860101_41860119del (hg19)
chr19:g.41354196_41354214del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.41354197_41354215del , CM000681.2:g.41354197_41354215del
GRCh38
NC_000019.9:g.41860102_41860120del , CM000681.1:g.41860102_41860120del
GRCh37
NC_000019.8:g.46551942_46551960del
NCBI36
NG_013091.1:g.14960_14978del
NG_013364.1:g.4713_4731del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000539627.5:c.-30+2995_-30+3013del
ENSP00000441900.1:n.-30+2995_-30+3013del
ENST00000604123.5:c.24_42del
ENSP00000474871.1:p.Val9GlyfsTer?
ENST00000604424.1:n.350+2995_350+3013del
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