Canonical Allele Identifier: CA1278368569

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108929322_108929325delinsTCTC , CM000664.2:g.108929322_108929325delinsTCTC GRCh38
NC_000002.11:g.109545778_109545781delinsTCTC , CM000664.1:g.109545778_109545781delinsTCTC GRCh37
NC_000002.10:g.108912210_108912213delinsTCTC NCBI36
NG_008257.1:g.65048_65051delinsGAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.229_232delinsGAGA (EDAR) MANE Select ENSP00000258443.2:p.Glu77=
ENST00000258443.6:c.229_232delinsGAGA (EDAR) ENSP00000258443.2:p.Glu77=
ENST00000376651.1:c.229_232delinsGAGA (EDAR) ENSP00000365839.1:p.Glu77=
ENST00000409271.5:c.229_232delinsGAGA (EDAR) ENSP00000386371.1:p.Glu77=
NM_022336.3:c.229_232delinsGAGA (EDAR) NP_071731.1:p.Glu77=
XM_006712204.1:c.229_232delinsGAGA (EDAR) XP_006712267.1:p.Glu77=
XM_011510502.1:c.280_283delinsGAGA (EDAR) XP_011508804.1:p.Glu94=
XM_011510503.1:c.280_283delinsGAGA (EDAR) XP_011508805.1:p.Glu94=
XM_011510502.2:c.373_376delinsGAGA (EDAR) XP_011508804.2:p.Glu125=
XM_011510503.2:c.373_376delinsGAGA (EDAR) XP_011508805.2:p.Glu125=
XM_017004623.2:c.8370+156276_8370+156279delinsTCTC (RANBP2) XP_016860112.1:n.8370+156276_8370+156279delinsTCTC
NM_022336.4:c.229_232delinsGAGA (EDAR) MANE Select NP_071731.1:p.Glu77=