Canonical Allele Identifier: CA2577065586

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108907813del , CM000664.2:g.108907813del GRCh38
NC_000002.11:g.109524269del , CM000664.1:g.109524269del GRCh37
NC_000002.10:g.108890701del NCBI36
NG_008257.1:g.86560del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.963+47del (EDAR) MANE Select ENSP00000258443.2:n.963+47del
ENST00000258443.6:c.963+47del (EDAR) ENSP00000258443.2:n.963+47del
ENST00000376651.1:c.1059+47del (EDAR) ENSP00000365839.1:n.1059+47del
ENST00000409271.5:c.1059+47del (EDAR) ENSP00000386371.1:n.1059+47del
NM_022336.3:c.963+47del (EDAR) NP_071731.1:n.963+47del
XM_006712204.1:c.1059+47del (EDAR) XP_006712267.1:n.1059+47del
XM_011510502.1:c.1110+47del (EDAR) XP_011508804.1:n.1110+47del
XM_011510503.1:c.1014+47del (EDAR) XP_011508805.1:n.1014+47del
XM_011510504.1:c.390+47del (EDAR) XP_011508806.1:n.390+47del
XM_011510502.2:c.1203+47del (EDAR) XP_011508804.2:n.1203+47del
XM_011510503.2:c.1107+47del (EDAR) XP_011508805.2:n.1107+47del
XM_017004623.2:c.8370+134767del (RANBP2) XP_016860112.1:n.8370+134767del
NM_022336.4:c.963+47del (EDAR) MANE Select NP_071731.1:n.963+47del