Canonical Allele Identifier: CA18330031
Community Standard Title: NM_004431.5(EPHA2):c.1682+217_1682+219del
Gene: EPHA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16134254_16134256del , CM000663.2:g.16134254_16134256del GRCh38
NC_000001.10:g.16460749_16460751del , CM000663.1:g.16460749_16460751del GRCh37
NC_000001.9:g.16333336_16333338del NCBI36
NG_021396.1:g.26837_26839del

Transcript Alleles

HGVS Amino-acid Change
NM_004431.5:c.1682+217_1682+219del MANE Select NP_004422.2:n.1682+217_1682+219del
ENST00000358432.8:c.1682+217_1682+219del MANE Select ENSP00000351209.5:n.1682+217_1682+219del
NM_001329090.1:c.1520+217_1520+219del NP_001316019.1:n.1520+217_1520+219del
NM_001329090.2:c.1520+217_1520+219del NP_001316019.1:n.1520+217_1520+219del
NM_004431.3:c.1682+217_1682+219del NP_004422.2:n.1682+217_1682+219del
NM_004431.4:c.1682+217_1682+219del NP_004422.2:n.1682+217_1682+219del
ENST00000358432.7:c.1682+217_1682+219del ENSP00000351209.5:n.1682+217_1682+219del
XM_017000537.1:c.1683-39_1683-37del XP_016856026.1:n.1683-39_1683-37del