Canonical Allele Identifier: CA1278369339

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108930893_108930894delinsAG , CM000664.2:g.108930893_108930894delinsAG GRCh38
NC_000002.11:g.109547349_109547350delinsAG , CM000664.1:g.109547349_109547350delinsAG GRCh37
NC_000002.10:g.108913781_108913782delinsAG NCBI36
NG_008257.1:g.63479_63480delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.51+70_51+71delinsCT (EDAR) MANE Select ENSP00000258443.2:n.51+70_51+71delinsCT
ENST00000258443.6:c.51+70_51+71delinsCT (EDAR) ENSP00000258443.2:n.51+70_51+71delinsCT
ENST00000376651.1:c.51+70_51+71delinsCT (EDAR) ENSP00000365839.1:n.51+70_51+71delinsCT
ENST00000409271.5:c.51+70_51+71delinsCT (EDAR) ENSP00000386371.1:n.51+70_51+71delinsCT
NM_022336.3:c.51+70_51+71delinsCT (EDAR) NP_071731.1:n.51+70_51+71delinsCT
XM_006712204.1:c.51+70_51+71delinsCT (EDAR) XP_006712267.1:n.51+70_51+71delinsCT
XM_011510502.1:c.102+70_102+71delinsCT (EDAR) XP_011508804.1:n.102+70_102+71delinsCT
XM_011510503.1:c.102+70_102+71delinsCT (EDAR) XP_011508805.1:n.102+70_102+71delinsCT
XM_011510502.2:c.195+70_195+71delinsCT (EDAR) XP_011508804.2:n.195+70_195+71delinsCT
XM_011510503.2:c.195+70_195+71delinsCT (EDAR) XP_011508805.2:n.195+70_195+71delinsCT
XM_017004623.2:c.8370+157847_8370+157848delinsAG (RANBP2) XP_016860112.1:n.8370+157847_8370+157848delinsAG
NM_022336.4:c.51+70_51+71delinsCT (EDAR) MANE Select NP_071731.1:n.51+70_51+71delinsCT