Canonical Allele Identifier: CA2577065510

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897316_108897319del , CM000664.2:g.108897316_108897319del GRCh38
NC_000002.11:g.109513772_109513775del , CM000664.1:g.109513772_109513775del GRCh37
NC_000002.10:g.108880204_108880207del NCBI36
NG_008257.1:g.97055_97058del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.1025-89_1025-86del (EDAR) MANE Select ENSP00000258443.2:n.1025-89_1025-86del
ENST00000258443.6:c.1025-89_1025-86del (EDAR) ENSP00000258443.2:n.1025-89_1025-86del
ENST00000376651.1:c.1121-89_1121-86del (EDAR) ENSP00000365839.1:n.1121-89_1121-86del
ENST00000409271.5:c.1121-89_1121-86del (EDAR) ENSP00000386371.1:n.1121-89_1121-86del
NM_022336.3:c.1025-89_1025-86del (EDAR) NP_071731.1:n.1025-89_1025-86del
XM_006712204.1:c.1121-89_1121-86del (EDAR) XP_006712267.1:n.1121-89_1121-86del
XM_011510502.1:c.1172-89_1172-86del (EDAR) XP_011508804.1:n.1172-89_1172-86del
XM_011510503.1:c.1076-89_1076-86del (EDAR) XP_011508805.1:n.1076-89_1076-86del
XM_011510504.1:c.452-89_452-86del (EDAR) XP_011508806.1:n.452-89_452-86del
XM_011510502.2:c.1265-89_1265-86del (EDAR) XP_011508804.2:n.1265-89_1265-86del
XM_011510503.2:c.1169-89_1169-86del (EDAR) XP_011508805.2:n.1169-89_1169-86del
XM_017004623.2:c.8370+124270_8370+124273del (RANBP2) XP_016860112.1:n.8370+124270_8370+124273del
NM_022336.4:c.1025-89_1025-86del (EDAR) MANE Select NP_071731.1:n.1025-89_1025-86del