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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:
CA633167811
Gene: TMEM91
HGNC
NCBI
Linked Data
dbSNP Id:
rs1418544871
gnomAD v2:
19-41860112-CAGAG-C
gnomAD v3:
19-41354207-CAGAG-C
gnomAD v4:
19-41354207-CAGAG-C
MyVariant Identifiers:
chr19:g.41860113_41860116del (hg19)
chr19:g.41354208_41354211del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.41354209_41354212del , CM000681.2:g.41354209_41354212del
GRCh38
NC_000019.9:g.41860114_41860117del , CM000681.1:g.41860114_41860117del
GRCh37
NC_000019.8:g.46551954_46551957del
NCBI36
NG_013091.1:g.14963_14966del
NG_013364.1:g.4716_4719del
Transcript Alleles
HGVS
Amino-acid change
ENST00000539627.5:c.-30+3007_-30+3010del
ENSP00000441900.1:n.-30+3007_-30+3010del
ENST00000604123.5:c.36_39del
ENSP00000474871.1:p.Lys14GlyfsTer?
ENST00000604424.1:n.350+3007_350+3010del
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