Canonical Allele Identifier: CA2522092250

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108930808_108930809insAT , CM000664.2:g.108930808_108930809insAT GRCh38
NC_000002.11:g.109547264_109547265insAT , CM000664.1:g.109547264_109547265insAT GRCh37
NC_000002.10:g.108913696_108913697insAT NCBI36
NG_008257.1:g.63564_63565insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.51+155_51+156insAT (EDAR) MANE Select ENSP00000258443.2:n.51+155_51+156insAT
ENST00000258443.6:c.51+155_51+156insAT (EDAR) ENSP00000258443.2:n.51+155_51+156insAT
ENST00000376651.1:c.51+155_51+156insAT (EDAR) ENSP00000365839.1:n.51+155_51+156insAT
ENST00000409271.5:c.51+155_51+156insAT (EDAR) ENSP00000386371.1:n.51+155_51+156insAT
NM_022336.3:c.51+155_51+156insAT (EDAR) NP_071731.1:n.51+155_51+156insAT
XM_006712204.1:c.51+155_51+156insAT (EDAR) XP_006712267.1:n.51+155_51+156insAT
XM_011510502.1:c.102+155_102+156insAT (EDAR) XP_011508804.1:n.102+155_102+156insAT
XM_011510503.1:c.102+155_102+156insAT (EDAR) XP_011508805.1:n.102+155_102+156insAT
XM_011510502.2:c.195+155_195+156insAT (EDAR) XP_011508804.2:n.195+155_195+156insAT
XM_011510503.2:c.195+155_195+156insAT (EDAR) XP_011508805.2:n.195+155_195+156insAT
XM_017004623.2:c.8370+157762_8370+157763insAT (RANBP2) XP_016860112.1:n.8370+157762_8370+157763insAT
NM_022336.4:c.51+155_51+156insAT (EDAR) MANE Select NP_071731.1:n.51+155_51+156insAT