Canonical Allele Identifier: CA1754593946
Gene: EN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155461183_155461193delinsCCCAGCCTTCT , CM000669.2:g.155461183_155461193delinsCCCAGCCTTCT GRCh38
NC_000007.13:g.155253878_155253888delinsCCCAGCCTTCT , CM000669.1:g.155253878_155253888delinsCCCAGCCTTCT GRCh37
NC_000007.12:g.154946639_154946649delinsCCCAGCCTTCT NCBI36
NG_007124.1:g.9464_9474delinsCCCAGCCTTCT

Transcript Alleles

HGVS Amino-acid change
ENST00000297375.4:c.686-1188_686-1178delinsCCCAGCCTTCT MANE Select ENSP00000297375.4:n.686-1188_686-1178delinsCCCAGCCTTCT
NM_001427.3:c.686-1188_686-1178delinsCCCAGCCTTCT NP_001418.2:n.686-1188_686-1178delinsCCCAGCCTTCT
NM_001427.4:c.686-1188_686-1178delinsCCCAGCCTTCT MANE Select NP_001418.2:n.686-1188_686-1178delinsCCCAGCCTTCT
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