Canonical Allele Identifier: CA1278354053

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108896631_108896632delinsAT , CM000664.2:g.108896631_108896632delinsAT GRCh38
NC_000002.11:g.109513087_109513088delinsAT , CM000664.1:g.109513087_109513088delinsAT GRCh37
NC_000002.10:g.108879519_108879520delinsAT NCBI36
NG_008257.1:g.97741_97742delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.*275_*276delinsAT (EDAR) MANE Select ENSP00000258443.2:n.*275_*276delinsAT
ENST00000258443.6:c.*275_*276delinsAT (EDAR) ENSP00000258443.2:n.*275_*276delinsAT
ENST00000376651.1:c.*275_*276delinsAT (EDAR) ENSP00000365839.1:n.*275_*276delinsAT
ENST00000409271.5:c.*275_*276delinsAT (EDAR) ENSP00000386371.1:n.*275_*276delinsAT
NM_022336.3:c.*275_*276delinsAT (EDAR) NP_071731.1:n.*275_*276delinsAT
XM_006712204.1:c.*275_*276delinsAT (EDAR) XP_006712267.1:n.*275_*276delinsAT
XM_011510502.1:c.*275_*276delinsAT (EDAR) XP_011508804.1:n.*275_*276delinsAT
XM_011510503.1:c.*275_*276delinsAT (EDAR) XP_011508805.1:n.*275_*276delinsAT
XM_011510504.1:c.*275_*276delinsAT (EDAR) XP_011508806.1:n.*275_*276delinsAT
XM_011510502.2:c.*275_*276delinsAT (EDAR) XP_011508804.2:n.*275_*276delinsAT
XM_011510503.2:c.*275_*276delinsAT (EDAR) XP_011508805.2:n.*275_*276delinsAT
XM_017004623.2:c.8370+123585_8370+123586delinsAT (RANBP2) XP_016860112.1:n.8370+123585_8370+123586delinsAT
NM_022336.4:c.*275_*276delinsAT (EDAR) MANE Select NP_071731.1:n.*275_*276delinsAT