Canonical Allele Identifier: CA2685784337
Gene: EN2 HGNC NCBI

Linked Data

gnomAD v4: 7-155463265-TTCTGGGATTTGGCCCTGGGAAGCAGCCCAGCGTACCCCAGGCCTGC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155463273_155463318del , CM000669.2:g.155463273_155463318del GRCh38
NC_000007.13:g.155255968_155256013del , CM000669.1:g.155255968_155256013del GRCh37
NC_000007.12:g.154948729_154948774del NCBI36
NG_007124.1:g.11554_11599del

Transcript Alleles

HGVS Amino-acid change
ENST00000297375.4:c.*586_*631del MANE Select ENSP00000297375.4:n.*586_*631del
NM_001427.3:c.*586_*631del NP_001418.2:n.*586_*631del
NM_001427.4:c.*586_*631del MANE Select NP_001418.2:n.*586_*631del
Search 100 bp 5'
Search 100 bp 3'