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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:
CA2610693547
Gene: SUFU
HGNC
NCBI
Linked Data
gnomAD v4:
10-102503909-TGGATAGGGTGCGCCGGCGCCCCGCCCCCCTTAGCGCCCCGCCGCCCCGAGGCACCCTCTGGCAGACTCGGCGGCGGCGACAGCCTGGGC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.102503913_102504001del , CM000672.2:g.102503913_102504001del
GRCh38
NC_000010.10:g.104263670_104263758del , CM000672.1:g.104263670_104263758del
GRCh37
NC_000010.9:g.104253660_104253748del
NCBI36
NG_011901.1:g.3758_3846del
NG_021338.1:g.4952_5040del , LRG_521:g.4952_5040del
Transcript Alleles
HGVS
Amino-acid change
XM_011539859.1:c.-29-211_-29-123del
XP_011538161.1:n.-29-211_-29-123del
XM_011539863.1:c.8+927_8+1015del
XP_011538165.1:n.8+927_8+1015del
XM_011539863.3:c.8+927_8+1015del
XP_011538165.1:n.8+927_8+1015del
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