Canonical Allele Identifier: CA1754593954
Gene: EN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155461201_155461203delinsCAG , CM000669.2:g.155461201_155461203delinsCAG GRCh38
NC_000007.13:g.155253896_155253898delinsCAG , CM000669.1:g.155253896_155253898delinsCAG GRCh37
NC_000007.12:g.154946657_154946659delinsCAG NCBI36
NG_007124.1:g.9482_9484delinsCAG

Transcript Alleles

HGVS Amino-acid change
ENST00000297375.4:c.686-1170_686-1168delinsCAG MANE Select ENSP00000297375.4:n.686-1170_686-1168deli...
NM_001427.3:c.686-1170_686-1168delinsCAG NP_001418.2:n.686-1170_686-1168delinsCAG
NM_001427.4:c.686-1170_686-1168delinsCAG MANE Select NP_001418.2:n.686-1170_686-1168delinsCAG