Canonical Allele Identifier: CA1278368619

Linked Data

dbSNP Id: rs1697323492

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108929408_108929409insAA , CM000664.2:g.108929408_108929409insAA GRCh38
NC_000002.11:g.109545864_109545865insAA , CM000664.1:g.109545864_109545865insAA GRCh37
NC_000002.10:g.108912296_108912297insAA NCBI36
NG_008257.1:g.64965_64966insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.175-29_175-28insTT (EDAR) MANE Select ENSP00000258443.2:n.175-29_175-28insTT
ENST00000258443.6:c.175-29_175-28insTT (EDAR) ENSP00000258443.2:n.175-29_175-28insTT
ENST00000376651.1:c.175-29_175-28insTT (EDAR) ENSP00000365839.1:n.175-29_175-28insTT
ENST00000409271.5:c.175-29_175-28insTT (EDAR) ENSP00000386371.1:n.175-29_175-28insTT
NM_022336.3:c.175-29_175-28insTT (EDAR) NP_071731.1:n.175-29_175-28insTT
XM_006712204.1:c.175-29_175-28insTT (EDAR) XP_006712267.1:n.175-29_175-28insTT
XM_011510502.1:c.226-29_226-28insTT (EDAR) XP_011508804.1:n.226-29_226-28insTT
XM_011510503.1:c.226-29_226-28insTT (EDAR) XP_011508805.1:n.226-29_226-28insTT
XM_011510502.2:c.319-29_319-28insTT (EDAR) XP_011508804.2:n.319-29_319-28insTT
XM_011510503.2:c.319-29_319-28insTT (EDAR) XP_011508805.2:n.319-29_319-28insTT
XM_017004623.2:c.8370+156362_8370+156363insAA (RANBP2) XP_016860112.1:n.8370+156362_8370+156363insAA
NM_022336.4:c.175-29_175-28insTT (EDAR) MANE Select NP_071731.1:n.175-29_175-28insTT