Canonical Allele Identifier: CA1278358660

Linked Data

dbSNP Id: rs1696827090

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108907336_108907337del , CM000664.2:g.108907336_108907337del GRCh38
NC_000002.11:g.109523792_109523793del , CM000664.1:g.109523792_109523793del GRCh37
NC_000002.10:g.108890224_108890225del NCBI36
NG_008257.1:g.87039_87040del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.963+526_963+527del (EDAR) MANE Select ENSP00000258443.2:n.963+526_963+527del
ENST00000258443.6:c.963+526_963+527del (EDAR) ENSP00000258443.2:n.963+526_963+527del
ENST00000376651.1:c.1059+526_1059+527del (EDAR) ENSP00000365839.1:n.1059+526_1059+527del
ENST00000409271.5:c.1059+526_1059+527del (EDAR) ENSP00000386371.1:n.1059+526_1059+527del
NM_022336.3:c.963+526_963+527del (EDAR) NP_071731.1:n.963+526_963+527del
XM_006712204.1:c.1059+526_1059+527del (EDAR) XP_006712267.1:n.1059+526_1059+527del
XM_011510502.1:c.1110+526_1110+527del (EDAR) XP_011508804.1:n.1110+526_1110+527del
XM_011510503.1:c.1014+526_1014+527del (EDAR) XP_011508805.1:n.1014+526_1014+527del
XM_011510504.1:c.390+526_390+527del (EDAR) XP_011508806.1:n.390+526_390+527del
XM_011510502.2:c.1203+526_1203+527del (EDAR) XP_011508804.2:n.1203+526_1203+527del
XM_011510503.2:c.1107+526_1107+527del (EDAR) XP_011508805.2:n.1107+526_1107+527del
XM_017004623.2:c.8370+134290_8370+134291del (RANBP2) XP_016860112.1:n.8370+134290_8370+134291del
NM_022336.4:c.963+526_963+527del (EDAR) MANE Select NP_071731.1:n.963+526_963+527del