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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:
CA797998947
Gene: ENAM
HGNC
NCBI
Linked Data
dbSNP Id:
rs1430914471
MyVariant Identifiers:
chr4:g.71494539_71494540insA (hg19)
chr4:g.70628822_70628823insA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.70628823dup , CM000666.2:g.70628823dup
GRCh38
NC_000004.11:g.71494540dup , CM000666.1:g.71494540dup
GRCh37
NG_013024.1:g.5080dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000396073.4:c.-202dup
MANE Select
ENSP00000379383.4:n.-202dup
ENST00000396073.3:c.-202dup
ENSP00000379383.3:n.-202dup
NM_031889.2:c.-202dup
NP_114095.2:n.-202dup
XM_006714056.4:c.-678dup
XP_006714119.1:n.-678dup
NM_031889.3:c.-202dup
MANE Select
NP_114095.2:n.-202dup
Search 100 bp 5'
Search 100 bp 3'