Canonical Allele Identifier: CA2838427743

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108912661del , CM000664.2:g.108912661del GRCh38
NC_000002.11:g.109529117del , CM000664.1:g.109529117del GRCh37
NC_000002.10:g.108895549del NCBI36
NG_008257.1:g.81713del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.529+18del (EDAR) MANE Select ENSP00000258443.2:n.529+18del
ENST00000258443.6:c.529+18del (EDAR) ENSP00000258443.2:n.529+18del
ENST00000376651.1:c.529+18del (EDAR) ENSP00000365839.1:n.529+18del
ENST00000409271.5:c.529+18del (EDAR) ENSP00000386371.1:n.529+18del
NM_022336.3:c.529+18del (EDAR) NP_071731.1:n.529+18del
XM_006712204.1:c.529+18del (EDAR) XP_006712267.1:n.529+18del
XM_011510502.1:c.580+18del (EDAR) XP_011508804.1:n.580+18del
XM_011510503.1:c.580+18del (EDAR) XP_011508805.1:n.580+18del
XM_011510504.1:c.-45+18del (EDAR) XP_011508806.1:n.-45+18del
XM_011510502.2:c.673+18del (EDAR) XP_011508804.2:n.673+18del
XM_011510503.2:c.673+18del (EDAR) XP_011508805.2:n.673+18del
XM_017004623.2:c.8370+139615del (RANBP2) XP_016860112.1:n.8370+139615del
NM_022336.4:c.529+18del (EDAR) MANE Select NP_071731.1:n.529+18del