Canonical Allele Identifier: CA1278354256

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897059_108897061delinsCAA , CM000664.2:g.108897059_108897061delinsCAA GRCh38
NC_000002.11:g.109513515_109513517delinsCAA , CM000664.1:g.109513515_109513517delinsCAA GRCh37
NC_000002.10:g.108879947_108879949delinsCAA NCBI36
NG_008257.1:g.97312_97314delinsTTG

Transcript Alleles

HGVS Amino-acid change
ENST00000258443.7:c.1193_1195delinsTTG (EDAR) MANE Select ENSP00000258443.2:p.Phe398=
ENST00000258443.6:c.1193_1195delinsTTG (EDAR) ENSP00000258443.2:p.Phe398=
ENST00000376651.1:c.1289_1291delinsTTG (EDAR) ENSP00000365839.1:p.Phe430=
ENST00000409271.5:c.1289_1291delinsTTG (EDAR) ENSP00000386371.1:p.Phe430=
NM_022336.3:c.1193_1195delinsTTG (EDAR) NP_071731.1:p.Phe398=
XM_006712204.1:c.1289_1291delinsTTG (EDAR) XP_006712267.1:p.Phe430=
XM_011510502.1:c.1340_1342delinsTTG (EDAR) XP_011508804.1:p.Phe447=
XM_011510503.1:c.1244_1246delinsTTG (EDAR) XP_011508805.1:p.Phe415=
XM_011510504.1:c.620_622delinsTTG (EDAR) XP_011508806.1:p.Phe207=
XM_011510502.2:c.1433_1435delinsTTG (EDAR) XP_011508804.2:p.Phe478=
XM_011510503.2:c.1337_1339delinsTTG (EDAR) XP_011508805.2:p.Phe446=
XM_017004623.2:c.8370+124013_8370+124015delinsCAA (RANBP2) XP_016860112.1:n.8370+124013_8370+124015d...
NM_022336.4:c.1193_1195delinsTTG (EDAR) MANE Select NP_071731.1:p.Phe398=