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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:
CA2820675378
Gene: FUNDC1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.44540990del , CM000685.2:g.44540990del
GRCh38
NC_000023.10:g.44400236del , CM000685.1:g.44400236del
GRCh37
NC_000023.9:g.44285180del
NCBI36
NG_021288.1:g.6989del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000378045.5:c.185+958del
MANE Select
ENSP00000367284.4:n.185+958del
ENST00000378045.4:c.185+958del
ENSP00000367284.4:n.185+958del
ENST00000483115.1:n.360+958del
NM_173794.3:c.185+958del
NP_776155.1:n.185+958del
NM_173794.4:c.185+958del
MANE Select
NP_776155.1:n.185+958del
Search 100 bp 5'
Search 100 bp 3'