×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1551651327
Gene: NT5ELP
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.64446459_64446461delinsAAC , CM000667.2:g.64446459_64446461delinsAAC
GRCh38
NC_000005.9:g.63742286_63742288delinsAAC , CM000667.1:g.63742286_63742288delinsAAC
GRCh37
NC_000005.8:g.63778042_63778044delinsAAC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000438016.2:n.222+4210_222+4212delinsGTT
Search 100 bp 5'
Search 100 bp 3'