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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:
CA2260466067
Gene: CAVIN1
HGNC
NCBI
Linked Data
dbSNP Id:
rs2085422032
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.42403115_42403118dup , CM000679.2:g.42403115_42403118dup
GRCh38
NC_000017.10:g.40555133_40555136dup , CM000679.1:g.40555133_40555136dup
GRCh37
NC_000017.9:g.37808659_37808662dup
NCBI36
NG_015845.1:g.25206_25209dup
NG_015845.2:g.25206_25209dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000357037.6:c.*1572_*1575dup
MANE Select
ENSP00000349541.4:n.*1572_*1575dup
ENST00000357037.5:c.*1572_*1575dup
ENSP00000349541.4:n.*1572_*1575dup
NM_012232.5:c.*1572_*1575dup
NP_036364.2:n.*1572_*1575dup
NM_012232.6:c.*1572_*1575dup
MANE Select
NP_036364.2:n.*1572_*1575dup
Search 100 bp 5'
Search 100 bp 3'