Canonical Allele Identifier: CA2838577982
Gene: EDA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70033561_70033562del , CM000685.2:g.70033561_70033562del GRCh38
NC_000023.10:g.69253411_69253412del , CM000685.1:g.69253411_69253412del GRCh37
NC_000023.9:g.69170136_69170137del NCBI36
NG_009809.1:g.422501_422502del
NG_009809.2:g.422495_422496del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374552.9:c.924+33_924+34del MANE Select ENSP00000363680.4:n.924+33_924+34del
ENST00000374552.8:c.924+33_924+34del ENSP00000363680.4:n.924+33_924+34del
ENST00000374553.6:c.918+39_918+40del ENSP00000363681.2:n.918+39_918+40del
ENST00000524573.5:c.909+39_909+40del ENSP00000432585.1:n.909+39_909+40del
ENST00000616899.1:c.528+33_528+34del ENSP00000481963.1:n.528+33_528+34del
NM_001005609.1:c.918+39_918+40del NP_001005609.1:n.918+39_918+40del
NM_001005612.2:c.909+39_909+40del NP_001005612.2:n.909+39_909+40del
NM_001399.4:c.924+33_924+34del NP_001390.1:n.924+33_924+34del
XM_006724630.2:c.915+33_915+34del XP_006724693.1:n.915+33_915+34del
XM_011530885.1:c.918+39_918+40del XP_011529187.1:n.918+39_918+40del
XM_011530885.2:c.918+39_918+40del XP_011529187.1:n.918+39_918+40del
XM_017029336.1:c.882+75_882+76del XP_016884825.1:n.882+75_882+76del
NM_001399.5:c.924+33_924+34del MANE Select NP_001390.1:n.924+33_924+34del
NM_001005609.2:c.918+39_918+40del NP_001005609.1:n.918+39_918+40del
NM_001005612.3:c.909+39_909+40del NP_001005612.2:n.909+39_909+40del