Canonical Allele Identifier: CA253633

Linked Data

dbSNP Id: rs797044436

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108910788_108910791del , CM000664.2:g.108910788_108910791del GRCh38
NC_000002.11:g.109527244_109527247del , CM000664.1:g.109527244_109527247del GRCh37
NC_000002.10:g.108893676_108893679del NCBI36
NG_008257.1:g.83586_83589del

Transcript Alleles

HGVS Amino-acid change
ENST00000258443.7:c.719_722del (EDAR) MANE Select ENSP00000258443.2:p.Lys240ArgfsTer7
ENST00000258443.6:c.719_722del (EDAR) ENSP00000258443.2:p.Lys240ArgfsTer7
ENST00000376651.1:c.815_818del (EDAR) ENSP00000365839.1:p.Lys272ArgfsTer7
ENST00000409271.5:c.815_818del (EDAR) ENSP00000386371.1:p.Lys272ArgfsTer7
NM_022336.3:c.719_722del (EDAR) NP_071731.1:p.Lys240ArgfsTer7
XM_006712204.1:c.815_818del (EDAR) XP_006712267.1:p.Lys272ArgfsTer7
XM_011510502.1:c.866_869del (EDAR) XP_011508804.1:p.Lys289ArgfsTer7
XM_011510503.1:c.770_773del (EDAR) XP_011508805.1:p.Lys257ArgfsTer7
XM_011510504.1:c.146_149del (EDAR) XP_011508806.1:p.Lys49ArgfsTer7
XM_011510502.2:c.959_962del (EDAR) XP_011508804.2:p.Lys320ArgfsTer7
XM_011510503.2:c.863_866del (EDAR) XP_011508805.2:p.Lys288ArgfsTer7
XM_017004623.2:c.8370+137742_8370+137745del (RANBP2) XP_016860112.1:n.8370+137742_8370+137745d...
NM_022336.4:c.719_722del (EDAR) MANE Select NP_071731.1:p.Lys240ArgfsTer7