Canonical Allele Identifier: CA1551651323
Gene: NT5ELP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.64446452_64446453delinsCA , CM000667.2:g.64446452_64446453delinsCA GRCh38
NC_000005.9:g.63742279_63742280delinsCA , CM000667.1:g.63742279_63742280delinsCA GRCh37
NC_000005.8:g.63778035_63778036delinsCA NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000438016.2:n.222+4218_222+4219delinsTG