Canonical Allele Identifier: CA2660593691

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897307_108897311del , CM000664.2:g.108897307_108897311del GRCh38
NC_000002.11:g.109513763_109513767del , CM000664.1:g.109513763_109513767del GRCh37
NC_000002.10:g.108880195_108880199del NCBI36
NG_008257.1:g.97066_97070del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.1025-78_1025-74del (EDAR) MANE Select ENSP00000258443.2:n.1025-78_1025-74del
ENST00000258443.6:c.1025-78_1025-74del (EDAR) ENSP00000258443.2:n.1025-78_1025-74del
ENST00000376651.1:c.1121-78_1121-74del (EDAR) ENSP00000365839.1:n.1121-78_1121-74del
ENST00000409271.5:c.1121-78_1121-74del (EDAR) ENSP00000386371.1:n.1121-78_1121-74del
NM_022336.3:c.1025-78_1025-74del (EDAR) NP_071731.1:n.1025-78_1025-74del
XM_006712204.1:c.1121-78_1121-74del (EDAR) XP_006712267.1:n.1121-78_1121-74del
XM_011510502.1:c.1172-78_1172-74del (EDAR) XP_011508804.1:n.1172-78_1172-74del
XM_011510503.1:c.1076-78_1076-74del (EDAR) XP_011508805.1:n.1076-78_1076-74del
XM_011510504.1:c.452-78_452-74del (EDAR) XP_011508806.1:n.452-78_452-74del
XM_011510502.2:c.1265-78_1265-74del (EDAR) XP_011508804.2:n.1265-78_1265-74del
XM_011510503.2:c.1169-78_1169-74del (EDAR) XP_011508805.2:n.1169-78_1169-74del
XM_017004623.2:c.8370+124261_8370+124265del (RANBP2) XP_016860112.1:n.8370+124261_8370+124265del
NM_022336.4:c.1025-78_1025-74del (EDAR) MANE Select NP_071731.1:n.1025-78_1025-74del