Canonical Allele Identifier: CA53473751

Linked Data

dbSNP Id: rs386649077

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108908283_108908285delinsTGG , CM000664.2:g.108908283_108908285delinsTGG GRCh38
NC_000002.11:g.109524739_109524741delinsTGG , CM000664.1:g.109524739_109524741delinsTGG GRCh37
NC_000002.10:g.108891171_108891173delinsTGG NCBI36
NG_008257.1:g.86088_86090delinsCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.804-266_804-264delinsCCA (EDAR) MANE Select ENSP00000258443.2:n.804-266_804-264delinsCCA
ENST00000258443.6:c.804-266_804-264delinsCCA (EDAR) ENSP00000258443.2:n.804-266_804-264delinsCCA
ENST00000376651.1:c.900-266_900-264delinsCCA (EDAR) ENSP00000365839.1:n.900-266_900-264delinsCCA
ENST00000409271.5:c.900-266_900-264delinsCCA (EDAR) ENSP00000386371.1:n.900-266_900-264delinsCCA
NM_022336.3:c.804-266_804-264delinsCCA (EDAR) NP_071731.1:n.804-266_804-264delinsCCA
XM_006712204.1:c.900-266_900-264delinsCCA (EDAR) XP_006712267.1:n.900-266_900-264delinsCCA
XM_011510502.1:c.951-266_951-264delinsCCA (EDAR) XP_011508804.1:n.951-266_951-264delinsCCA
XM_011510503.1:c.855-266_855-264delinsCCA (EDAR) XP_011508805.1:n.855-266_855-264delinsCCA
XM_011510504.1:c.231-266_231-264delinsCCA (EDAR) XP_011508806.1:n.231-266_231-264delinsCCA
XM_011510502.2:c.1044-266_1044-264delinsCCA (EDAR) XP_011508804.2:n.1044-266_1044-264delinsCCA
XM_011510503.2:c.948-266_948-264delinsCCA (EDAR) XP_011508805.2:n.948-266_948-264delinsCCA
XM_017004623.2:c.8370+135237_8370+135239delinsTGG (RANBP2) XP_016860112.1:n.8370+135237_8370+135239delinsTGG
NM_022336.4:c.804-266_804-264delinsCCA (EDAR) MANE Select NP_071731.1:n.804-266_804-264delinsCCA