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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:
CA2625651027
Gene: VSX2
HGNC
NCBI
Linked Data
gnomAD v4:
14-74259536-AG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.74259540del , CM000676.2:g.74259540del
GRCh38
NC_000014.8:g.74726243del , CM000676.1:g.74726243del
GRCh37
NC_000014.7:g.73795996del
NCBI36
NG_013092.1:g.25069del
Transcript Alleles
HGVS
Amino-acid change
ENST00000261980.3:c.580-62del
MANE Select
ENSP00000261980.2:n.580-62del
ENST00000261980.2:c.580-62del
ENSP00000261980.2:n.580-62del
NM_182894.2:c.580-62del
NP_878314.1:n.580-62del
XM_011536719.1:c.580-62del
XP_011535021.1:n.580-62del
NM_182894.3:c.580-62del
MANE Select
NP_878314.1:n.580-62del
Search 100 bp 5'
Search 100 bp 3'