Canonical Allele Identifier: CA1278354415

Linked Data

dbSNP Id: rs1696620666

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897382_108897384dup , CM000664.2:g.108897382_108897384dup GRCh38
NC_000002.11:g.109513838_109513840dup , CM000664.1:g.109513838_109513840dup GRCh37
NC_000002.10:g.108880270_108880272dup NCBI36
NG_008257.1:g.96989_96991dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.1025-155_1025-153dup (EDAR) MANE Select ENSP00000258443.2:n.1025-155_1025-153dup
ENST00000258443.6:c.1025-155_1025-153dup (EDAR) ENSP00000258443.2:n.1025-155_1025-153dup
ENST00000376651.1:c.1121-155_1121-153dup (EDAR) ENSP00000365839.1:n.1121-155_1121-153dup
ENST00000409271.5:c.1121-155_1121-153dup (EDAR) ENSP00000386371.1:n.1121-155_1121-153dup
NM_022336.3:c.1025-155_1025-153dup (EDAR) NP_071731.1:n.1025-155_1025-153dup
XM_006712204.1:c.1121-155_1121-153dup (EDAR) XP_006712267.1:n.1121-155_1121-153dup
XM_011510502.1:c.1172-155_1172-153dup (EDAR) XP_011508804.1:n.1172-155_1172-153dup
XM_011510503.1:c.1076-155_1076-153dup (EDAR) XP_011508805.1:n.1076-155_1076-153dup
XM_011510504.1:c.452-155_452-153dup (EDAR) XP_011508806.1:n.452-155_452-153dup
XM_011510502.2:c.1265-155_1265-153dup (EDAR) XP_011508804.2:n.1265-155_1265-153dup
XM_011510503.2:c.1169-155_1169-153dup (EDAR) XP_011508805.2:n.1169-155_1169-153dup
XM_017004623.2:c.8370+124336_8370+124338dup (RANBP2) XP_016860112.1:n.8370+124336_8370+124338dup
NM_022336.4:c.1025-155_1025-153dup (EDAR) MANE Select NP_071731.1:n.1025-155_1025-153dup