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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:
CA2692367443
Gene: SURF1
HGNC
NCBI
Linked Data
gnomAD v4:
9-133351872-AT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133351873del , CM000671.2:g.133351873del
GRCh38
NC_000009.10:g.135208549del
NCBI36
NG_008477.1:g.9634del
Transcript Alleles
HGVS
Amino-acid change
ENST00000371974.8:c.*40del
MANE Select
ENSP00000361042.3:n.*40del
ENST00000371974.7:c.*40del
ENSP00000361042.3:n.*40del
ENST00000615505.4:c.*40del
ENSP00000482067.1:n.*40del
NM_001280787.1:c.*40del
NP_001267716.1:n.*40del
NM_003172.3:c.*40del
NP_003163.1:n.*40del
XM_011518942.1:c.*40del
XP_011517244.1:n.*40del
NM_003172.4:c.*40del
MANE Select
NP_003163.1:n.*40del
Search 100 bp 5'
Search 100 bp 3'