Canonical Allele Identifier: CA1109065198
Gene: EN2 HGNC NCBI

Linked Data

dbSNP Id: rs1795690059
gnomAD v3: 7-155461135-TCTC-T
gnomAD v4: 7-155461135-TCTC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155461139_155461141del , CM000669.2:g.155461139_155461141del GRCh38
NC_000007.13:g.155253834_155253836del , CM000669.1:g.155253834_155253836del GRCh37
NC_000007.12:g.154946595_154946597del NCBI36
NG_007124.1:g.9420_9422del

Transcript Alleles

HGVS Amino-acid change
ENST00000297375.4:c.686-1232_686-1230del MANE Select ENSP00000297375.4:n.686-1232_686-1230del
NM_001427.3:c.686-1232_686-1230del NP_001418.2:n.686-1232_686-1230del
NM_001427.4:c.686-1232_686-1230del MANE Select NP_001418.2:n.686-1232_686-1230del
Search 100 bp 5'
Search 100 bp 3'