Canonical Allele Identifier: CA1278359118

Linked Data

dbSNP Id: rs1696850326

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108908253_108908257del , CM000664.2:g.108908253_108908257del GRCh38
NC_000002.11:g.109524709_109524713del , CM000664.1:g.109524709_109524713del GRCh37
NC_000002.10:g.108891141_108891145del NCBI36
NG_008257.1:g.86116_86120del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.804-238_804-234del (EDAR) MANE Select ENSP00000258443.2:n.804-238_804-234del
ENST00000258443.6:c.804-238_804-234del (EDAR) ENSP00000258443.2:n.804-238_804-234del
ENST00000376651.1:c.900-238_900-234del (EDAR) ENSP00000365839.1:n.900-238_900-234del
ENST00000409271.5:c.900-238_900-234del (EDAR) ENSP00000386371.1:n.900-238_900-234del
NM_022336.3:c.804-238_804-234del (EDAR) NP_071731.1:n.804-238_804-234del
XM_006712204.1:c.900-238_900-234del (EDAR) XP_006712267.1:n.900-238_900-234del
XM_011510502.1:c.951-238_951-234del (EDAR) XP_011508804.1:n.951-238_951-234del
XM_011510503.1:c.855-238_855-234del (EDAR) XP_011508805.1:n.855-238_855-234del
XM_011510504.1:c.231-238_231-234del (EDAR) XP_011508806.1:n.231-238_231-234del
XM_011510502.2:c.1044-238_1044-234del (EDAR) XP_011508804.2:n.1044-238_1044-234del
XM_011510503.2:c.948-238_948-234del (EDAR) XP_011508805.2:n.948-238_948-234del
XM_017004623.2:c.8370+135207_8370+135211del (RANBP2) XP_016860112.1:n.8370+135207_8370+135211del
NM_022336.4:c.804-238_804-234del (EDAR) MANE Select NP_071731.1:n.804-238_804-234del