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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:
CA1754593917
Gene: EN2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1795690124
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.155461142_155461143del , CM000669.2:g.155461142_155461143del
GRCh38
NC_000007.13:g.155253837_155253838del , CM000669.1:g.155253837_155253838del
GRCh37
NC_000007.12:g.154946598_154946599del
NCBI36
NG_007124.1:g.9423_9424del
Transcript Alleles
HGVS
Amino-acid change
ENST00000297375.4:c.686-1229_686-1228del
MANE Select
ENSP00000297375.4:n.686-1229_686-1228del
NM_001427.3:c.686-1229_686-1228del
NP_001418.2:n.686-1229_686-1228del
NM_001427.4:c.686-1229_686-1228del
MANE Select
NP_001418.2:n.686-1229_686-1228del
Search 100 bp 5'
Search 100 bp 3'