Canonical Allele Identifier: CA2693978747
Gene: EDA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70027833_70027836del , CM000685.2:g.70027833_70027836del GRCh38
NC_000023.10:g.69247683_69247686del , CM000685.1:g.69247683_69247686del GRCh37
NC_000023.9:g.69164408_69164411del NCBI36
NG_009809.1:g.416773_416776del
NG_009809.2:g.416767_416770del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374552.9:c.527-24_527-21del MANE Select ENSP00000363680.4:n.527-24_527-21del
ENST00000374552.8:c.527-24_527-21del ENSP00000363680.4:n.527-24_527-21del
ENST00000374553.6:c.527-24_527-21del ENSP00000363681.2:n.527-24_527-21del
ENST00000503592.5:c.131-24_131-21del ENSP00000423037.1:n.131-24_131-21del
ENST00000524573.5:c.527-24_527-21del ENSP00000432585.1:n.527-24_527-21del
ENST00000616899.1:c.131-24_131-21del ENSP00000481963.1:n.131-24_131-21del
NM_001005609.1:c.527-24_527-21del NP_001005609.1:n.527-24_527-21del
NM_001005612.2:c.527-24_527-21del NP_001005612.2:n.527-24_527-21del
NM_001399.4:c.527-24_527-21del NP_001390.1:n.527-24_527-21del
XM_006724630.2:c.527-24_527-21del XP_006724693.1:n.527-24_527-21del
XM_011530885.1:c.527-24_527-21del XP_011529187.1:n.527-24_527-21del
XM_011530885.2:c.527-24_527-21del XP_011529187.1:n.527-24_527-21del
XM_017029336.1:c.527-24_527-21del XP_016884825.1:n.527-24_527-21del
NM_001399.5:c.527-24_527-21del MANE Select NP_001390.1:n.527-24_527-21del
NM_001005609.2:c.527-24_527-21del NP_001005609.1:n.527-24_527-21del
NM_001005612.3:c.527-24_527-21del NP_001005612.2:n.527-24_527-21del