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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:
CA2336426949
Gene: TMEM91
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.41354207_41354211delinsCAGAG , CM000681.2:g.41354207_41354211delinsCAGAG
GRCh38
NC_000019.9:g.41860112_41860116delinsCAGAG , CM000681.1:g.41860112_41860116delinsCAGAG
GRCh37
NC_000019.8:g.46551952_46551956delinsCAGAG
NCBI36
NG_013091.1:g.14963_14967delinsCTCTG
NG_013364.1:g.4716_4720delinsCTCTG
Transcript Alleles
HGVS
Amino-acid change
ENST00000539627.5:c.-30+3005_-30+3009delinsCAGAG
ENSP00000441900.1:n.-30+3005_-30+3009delinsCAGAG
ENST00000604123.5:c.34_38delinsCAGAG
ENSP00000474871.1:p.Gln12=
ENST00000604424.1:n.350+3005_350+3009delinsCAGAG
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