Allele Registry

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.

Canonical Allele Identifier: CA1076864884

Gene: NT5ELP HGNC NCBI

Linked Data

dbSNP Id: rs1747846648

gnomAD v3: 5-64446401-TAAAAGAA-T

gnomAD v4: 5-64446401-TAAAAGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.64446408_64446414del , CM000667.2:g.64446408_64446414del	GRCh38
NC_000005.9:g.63742235_63742241del , CM000667.1:g.63742235_63742241del	GRCh37
NC_000005.8:g.63777991_63777997del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000438016.2:n.222+4263_222+4269del

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