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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:
CA2651626755
Gene: TGM6
HGNC
NCBI
Linked Data
gnomAD v4:
20-2394446-AC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.2394449del , CM000682.2:g.2394449del
GRCh38
NC_000020.10:g.2375095del , CM000682.1:g.2375095del
GRCh37
NC_000020.9:g.2323095del
NCBI36
NG_031917.1:g.18542del
Transcript Alleles
HGVS
Amino-acid change
ENST00000202625.7:c.8-3del
MANE Select
ENSP00000202625.2:n.8-3del
ENST00000202625.6:c.8-3del
ENSP00000202625.2:n.8-3del
ENST00000381423.1:c.8-3del
ENSP00000370831.1:n.8-3del
NM_001254734.1:c.8-3del
NP_001241663.1:n.8-3del
NM_198994.2:c.8-3del
NP_945345.2:n.8-3del
NM_001254734.2:c.8-3del
NP_001241663.1:n.8-3del
NM_198994.3:c.8-3del
MANE Select
NP_945345.2:n.8-3del
Search 100 bp 5'
Search 100 bp 3'