Canonical Allele Identifier: CA1278354035

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108896588_108896589delinsAT , CM000664.2:g.108896588_108896589delinsAT GRCh38
NC_000002.11:g.109513044_109513045delinsAT , CM000664.1:g.109513044_109513045delinsAT GRCh37
NC_000002.10:g.108879476_108879477delinsAT NCBI36
NG_008257.1:g.97784_97785delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.*318_*319delinsAT (EDAR) MANE Select ENSP00000258443.2:n.*318_*319delinsAT
ENST00000258443.6:c.*318_*319delinsAT (EDAR) ENSP00000258443.2:n.*318_*319delinsAT
ENST00000376651.1:c.*318_*319delinsAT (EDAR) ENSP00000365839.1:n.*318_*319delinsAT
ENST00000409271.5:c.*318_*319delinsAT (EDAR) ENSP00000386371.1:n.*318_*319delinsAT
NM_022336.3:c.*318_*319delinsAT (EDAR) NP_071731.1:n.*318_*319delinsAT
XM_006712204.1:c.*318_*319delinsAT (EDAR) XP_006712267.1:n.*318_*319delinsAT
XM_011510502.1:c.*318_*319delinsAT (EDAR) XP_011508804.1:n.*318_*319delinsAT
XM_011510503.1:c.*318_*319delinsAT (EDAR) XP_011508805.1:n.*318_*319delinsAT
XM_011510504.1:c.*318_*319delinsAT (EDAR) XP_011508806.1:n.*318_*319delinsAT
XM_011510502.2:c.*318_*319delinsAT (EDAR) XP_011508804.2:n.*318_*319delinsAT
XM_011510503.2:c.*318_*319delinsAT (EDAR) XP_011508805.2:n.*318_*319delinsAT
XM_017004623.2:c.8370+123542_8370+123543delinsAT (RANBP2) XP_016860112.1:n.8370+123542_8370+123543delinsAT
NM_022336.4:c.*318_*319delinsAT (EDAR) MANE Select NP_071731.1:n.*318_*319delinsAT