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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:
CA2651916409
Gene: JAG1
HGNC
NCBI
Linked Data
gnomAD v4:
20-10650242-CT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.10650244del , CM000682.2:g.10650244del
GRCh38
NC_000020.10:g.10630892del , CM000682.1:g.10630892del
GRCh37
NC_000020.9:g.10578892del
NCBI36
NG_007496.1:g.28804del
Transcript Alleles
HGVS
Amino-acid change
ENST00000254958.10:c.1234+4del
MANE Select
ENSP00000254958.4:n.1234+4del
ENST00000617965.2:n.1823+4del
ENST00000254958.9:c.1234+4del
ENSP00000254958.4:n.1234+4del
ENST00000423891.6:n.1100+4del
ENST00000622545.1:c.11+4del
NM_000214.2:c.1234+4del
NP_000205.1:n.1234+4del
NM_000214.3:c.1234+4del
MANE Select
NP_000205.1:n.1234+4del
Search 100 bp 5'
Search 100 bp 3'