Canonical Allele Identifier: CA1278354191

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108896918_108896919delinsCA , CM000664.2:g.108896918_108896919delinsCA GRCh38
NC_000002.11:g.109513374_109513375delinsCA , CM000664.1:g.109513374_109513375delinsCA GRCh37
NC_000002.10:g.108879806_108879807delinsCA NCBI36
NG_008257.1:g.97454_97455delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.1335_1336delinsTG (EDAR) MANE Select ENSP00000258443.2:p.His445=
ENST00000258443.6:c.1335_1336delinsTG (EDAR) ENSP00000258443.2:p.His445=
ENST00000376651.1:c.1431_1432delinsTG (EDAR) ENSP00000365839.1:p.His477=
ENST00000409271.5:c.1431_1432delinsTG (EDAR) ENSP00000386371.1:p.His477=
NM_022336.3:c.1335_1336delinsTG (EDAR) NP_071731.1:p.His445=
XM_006712204.1:c.1431_1432delinsTG (EDAR) XP_006712267.1:p.His477=
XM_011510502.1:c.1482_1483delinsTG (EDAR) XP_011508804.1:p.His494=
XM_011510503.1:c.1386_1387delinsTG (EDAR) XP_011508805.1:p.His462=
XM_011510504.1:c.762_763delinsTG (EDAR) XP_011508806.1:p.His254=
XM_011510502.2:c.1575_1576delinsTG (EDAR) XP_011508804.2:p.His525=
XM_011510503.2:c.1479_1480delinsTG (EDAR) XP_011508805.2:p.His493=
XM_017004623.2:c.8370+123872_8370+123873delinsCA (RANBP2) XP_016860112.1:n.8370+123872_8370+123873delinsCA
NM_022336.4:c.1335_1336delinsTG (EDAR) MANE Select NP_071731.1:p.His445=