Canonical Allele Identifier: CA1278368591
Gene: EDAR HGNC NCBI
RANBP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108929350del , CM000664.2:g.108929350del GRCh38
NC_000002.11:g.109545806del , CM000664.1:g.109545806del GRCh37
NC_000002.10:g.108912238del NCBI36
NG_008257.1:g.65023del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.204del (EDAR) MANE Select ENSP00000258443.2:p.Tyr69ThrfsTer?
ENST00000258443.6:c.204del (EDAR) ENSP00000258443.2:p.Tyr69ThrfsTer?
ENST00000376651.1:c.204del (EDAR) ENSP00000365839.1:p.Tyr69ThrfsTer?
ENST00000409271.5:c.204del (EDAR) ENSP00000386371.1:p.Tyr69ThrfsTer?
NM_022336.3:c.204del (EDAR) NP_071731.1:p.Tyr69ThrfsTer?
XM_006712204.1:c.204del (EDAR) XP_006712267.1:p.Tyr69ThrfsTer?
XM_011510502.1:c.255del (EDAR) XP_011508804.1:p.Tyr86ThrfsTer?
XM_011510503.1:c.255del (EDAR) XP_011508805.1:p.Tyr86ThrfsTer?
XM_011510502.2:c.348del (EDAR) XP_011508804.2:p.Tyr117ThrfsTer?
XM_011510503.2:c.348del (EDAR) XP_011508805.2:p.Tyr117ThrfsTer?
XM_017004623.2:c.8370+156304del (RANBP2) XP_016860112.1:n.8370+156304del
NM_022336.4:c.204del (EDAR) MANE Select NP_071731.1:p.Tyr69ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'