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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
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Canonical Allele Identifier:
CA1754593911
Gene: EN2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.155461135_155461138delinsTCTC , CM000669.2:g.155461135_155461138delinsTCTC
GRCh38
NC_000007.13:g.155253830_155253833delinsTCTC , CM000669.1:g.155253830_155253833delinsTCTC
GRCh37
NC_000007.12:g.154946591_154946594delinsTCTC
NCBI36
NG_007124.1:g.9416_9419delinsTCTC
Transcript Alleles
HGVS
Amino-acid change
ENST00000297375.4:c.686-1236_686-1233delinsTCTC
MANE Select
ENSP00000297375.4:n.686-1236_686-1233deli...
NM_001427.3:c.686-1236_686-1233delinsTCTC
NP_001418.2:n.686-1236_686-1233delinsTCTC...
NM_001427.4:c.686-1236_686-1233delinsTCTC
MANE Select
NP_001418.2:n.686-1236_686-1233delinsTCTC...
Search 100 bp 5'
Search 100 bp 3'