Canonical Allele Identifier: CA2435979575
Gene: EDA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70027927_70027954delinsCCCAGGAATTCCAGGGATTCCTGGAATT , CM000685.2:g.70027927_70027954delinsCCCAGGAATTCCAGGGATTCCTGGAATT GRCh38
NC_000023.10:g.69247777_69247804delinsCCCAGGAATTCCAGGGATTCCTGGAATT , CM000685.1:g.69247777_69247804delinsCCCAGGAATTCCAGGGATTCCTGGAATT GRCh37
NC_000023.9:g.69164502_69164529delinsCCCAGGAATTCCAGGGATTCCTGGAATT NCBI36
NG_009809.1:g.416867_416894delinsCCCAGGAATTCCAGGGATTCCTGGAATT
NG_009809.2:g.416861_416888delinsCCCAGGAATTCCAGGGATTCCTGGAATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000374552.9:c.597_624delinsCCCAGGAATTCCAGGGATTCCTGGAATT MANE Select ENSP00000363680.4:p.Pro199=
ENST00000374552.8:c.597_624delinsCCCAGGAATTCCAGGGATTCCTGGAATT ENSP00000363680.4:p.Pro199=
ENST00000374553.6:c.597_624delinsCCCAGGAATTCCAGGGATTCCTGGAATT ENSP00000363681.2:p.Pro199=
ENST00000503592.5:c.201_228delinsCCCAGGAATTCCAGGGATTCCTGGAATT ENSP00000423037.1:p.Pro67=
ENST00000524573.5:c.597_624delinsCCCAGGAATTCCAGGGATTCCTGGAATT ENSP00000432585.1:p.Pro199=
ENST00000616899.1:c.201_228delinsCCCAGGAATTCCAGGGATTCCTGGAATT ENSP00000481963.1:p.Pro67=
NM_001005609.1:c.597_624delinsCCCAGGAATTCCAGGGATTCCTGGAATT NP_001005609.1:p.Pro199=
NM_001005612.2:c.597_624delinsCCCAGGAATTCCAGGGATTCCTGGAATT NP_001005612.2:p.Pro199=
NM_001399.4:c.597_624delinsCCCAGGAATTCCAGGGATTCCTGGAATT NP_001390.1:p.Pro199=
XM_006724630.2:c.597_624delinsCCCAGGAATTCCAGGGATTCCTGGAATT XP_006724693.1:p.Pro199=
XM_011530885.1:c.597_624delinsCCCAGGAATTCCAGGGATTCCTGGAATT XP_011529187.1:p.Pro199=
XM_011530885.2:c.597_624delinsCCCAGGAATTCCAGGGATTCCTGGAATT XP_011529187.1:p.Pro199=
XM_017029336.1:c.597_624delinsCCCAGGAATTCCAGGGATTCCTGGAATT XP_016884825.1:p.Pro199=
NM_001399.5:c.597_624delinsCCCAGGAATTCCAGGGATTCCTGGAATT MANE Select NP_001390.1:p.Pro199=
NM_001005609.2:c.597_624delinsCCCAGGAATTCCAGGGATTCCTGGAATT NP_001005609.1:p.Pro199=
NM_001005612.3:c.597_624delinsCCCAGGAATTCCAGGGATTCCTGGAATT NP_001005612.2:p.Pro199=