Canonical Allele Identifier: CA916620066

Linked Data

dbSNP Id: rs11306434

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108907653_108907661dup , CM000664.2:g.108907653_108907661dup GRCh38
NC_000002.11:g.109524109_109524117dup , CM000664.1:g.109524109_109524117dup GRCh37
NC_000002.10:g.108890541_108890549dup NCBI36
NG_008257.1:g.86715_86723dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.963+202_963+210dup (EDAR) MANE Select ENSP00000258443.2:n.963+202_963+210dup
ENST00000258443.6:c.963+202_963+210dup (EDAR) ENSP00000258443.2:n.963+202_963+210dup
ENST00000376651.1:c.1059+202_1059+210dup (EDAR) ENSP00000365839.1:n.1059+202_1059+210dup
ENST00000409271.5:c.1059+202_1059+210dup (EDAR) ENSP00000386371.1:n.1059+202_1059+210dup
NM_022336.3:c.963+202_963+210dup (EDAR) NP_071731.1:n.963+202_963+210dup
XM_006712204.1:c.1059+202_1059+210dup (EDAR) XP_006712267.1:n.1059+202_1059+210dup
XM_011510502.1:c.1110+202_1110+210dup (EDAR) XP_011508804.1:n.1110+202_1110+210dup
XM_011510503.1:c.1014+202_1014+210dup (EDAR) XP_011508805.1:n.1014+202_1014+210dup
XM_011510504.1:c.390+202_390+210dup (EDAR) XP_011508806.1:n.390+202_390+210dup
XM_011510502.2:c.1203+202_1203+210dup (EDAR) XP_011508804.2:n.1203+202_1203+210dup
XM_011510503.2:c.1107+202_1107+210dup (EDAR) XP_011508805.2:n.1107+202_1107+210dup
XM_017004623.2:c.8370+134607_8370+134615dup (RANBP2) XP_016860112.1:n.8370+134607_8370+134615dup
NM_022336.4:c.963+202_963+210dup (EDAR) MANE Select NP_071731.1:n.963+202_963+210dup