Canonical Allele Identifier: CA1278386647

Linked Data

dbSNP Id: rs1697989245

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108959255_108959257del , CM000664.2:g.108959255_108959257del GRCh38
NC_000002.11:g.109575711_109575713del , CM000664.1:g.109575711_109575713del GRCh37
NC_000002.10:g.108942143_108942145del NCBI36
NG_008257.1:g.35121_35123del

Transcript Alleles

HGVS Amino-acid change
ENST00000258443.7:c.-18-28220_-18-28218del (EDAR) MANE Select ENSP00000258443.2:n.-18-28220_-18-28218de...
ENST00000258443.6:c.-18-28220_-18-28218del (EDAR) ENSP00000258443.2:n.-18-28220_-18-28218de...
ENST00000376651.1:c.-18-28220_-18-28218del (EDAR) ENSP00000365839.1:n.-18-28220_-18-28218de...
ENST00000409271.5:c.-134-18926_-134-18924del (EDAR) ENSP00000386371.1:n.-134-18926_-134-18924...
NM_022336.3:c.-18-28220_-18-28218del (EDAR) NP_071731.1:n.-18-28220_-18-28218del
XM_006712204.1:c.-18-28220_-18-28218del (EDAR) XP_006712267.1:n.-18-28220_-18-28218del
XM_011510502.1:c.33+6371_33+6373del (EDAR) XP_011508804.1:n.33+6371_33+6373del
XM_011510503.1:c.33+6371_33+6373del (EDAR) XP_011508805.1:n.33+6371_33+6373del
XM_011510502.2:c.126+6371_126+6373del (EDAR) XP_011508804.2:n.126+6371_126+6373del
XM_011510503.2:c.126+6371_126+6373del (EDAR) XP_011508805.2:n.126+6371_126+6373del
XM_017004623.2:c.8370+186209_8370+186211del (RANBP2) XP_016860112.1:n.8370+186209_8370+186211d...
NM_022336.4:c.-18-28220_-18-28218del (EDAR) MANE Select NP_071731.1:n.-18-28220_-18-28218del