Canonical Allele Identifier: CA1278354373

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897312_108897337delinsAAAAATTATTTGAAAAAAATTTTTTT , CM000664.2:g.108897312_108897337delinsAAAAATTATTTGAAAAAAATTTTTTT GRCh38
NC_000002.11:g.109513768_109513793delinsAAAAATTATTTGAAAAAAATTTTTTT , CM000664.1:g.109513768_109513793delinsAAAAATTATTTGAAAAAAATTTTTTT GRCh37
NC_000002.10:g.108880200_108880225delinsAAAAATTATTTGAAAAAAATTTTTTT NCBI36
NG_008257.1:g.97036_97061delinsAAAAAAATTTTTTTCAAATAATTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.1025-108_1025-83delinsAAAAAAATTTTTTTCAAATAATTTTT (EDAR) MANE Select ENSP00000258443.2:n.1025-108_1025-83delinsAAAAAAATTTTTTTCAAAT...
ENST00000258443.6:c.1025-108_1025-83delinsAAAAAAATTTTTTTCAAATAATTTTT (EDAR) ENSP00000258443.2:n.1025-108_1025-83delinsAAAAAAATTTTTTTCAAAT...
ENST00000376651.1:c.1121-108_1121-83delinsAAAAAAATTTTTTTCAAATAATTTTT (EDAR) ENSP00000365839.1:n.1121-108_1121-83delinsAAAAAAATTTTTTTCAAAT...
ENST00000409271.5:c.1121-108_1121-83delinsAAAAAAATTTTTTTCAAATAATTTTT (EDAR) ENSP00000386371.1:n.1121-108_1121-83delinsAAAAAAATTTTTTTCAAAT...
NM_022336.3:c.1025-108_1025-83delinsAAAAAAATTTTTTTCAAATAATTTTT (EDAR) NP_071731.1:n.1025-108_1025-83delinsAAAAAAATTTTTTTCAAATAATTTT...
XM_006712204.1:c.1121-108_1121-83delinsAAAAAAATTTTTTTCAAATAATTTTT (EDAR) XP_006712267.1:n.1121-108_1121-83delinsAAAAAAATTTTTTTCAAATAAT...
XM_011510502.1:c.1172-108_1172-83delinsAAAAAAATTTTTTTCAAATAATTTTT (EDAR) XP_011508804.1:n.1172-108_1172-83delinsAAAAAAATTTTTTTCAAATAAT...
XM_011510503.1:c.1076-108_1076-83delinsAAAAAAATTTTTTTCAAATAATTTTT (EDAR) XP_011508805.1:n.1076-108_1076-83delinsAAAAAAATTTTTTTCAAATAAT...
XM_011510504.1:c.452-108_452-83delinsAAAAAAATTTTTTTCAAATAATTTTT (EDAR) XP_011508806.1:n.452-108_452-83delinsAAAAAAATTTTTTTCAAATAATTT...
XM_011510502.2:c.1265-108_1265-83delinsAAAAAAATTTTTTTCAAATAATTTTT (EDAR) XP_011508804.2:n.1265-108_1265-83delinsAAAAAAATTTTTTTCAAATAAT...
XM_011510503.2:c.1169-108_1169-83delinsAAAAAAATTTTTTTCAAATAATTTTT (EDAR) XP_011508805.2:n.1169-108_1169-83delinsAAAAAAATTTTTTTCAAATAAT...
XM_017004623.2:c.8370+124266_8370+124291delinsAAAAATTATTTGAAAAAAATTTTTTT (RANBP2) XP_016860112.1:n.8370+124266_8370+124291delinsAAAAATTATTTGAAA...
NM_022336.4:c.1025-108_1025-83delinsAAAAAAATTTTTTTCAAATAATTTTT (EDAR) MANE Select NP_071731.1:n.1025-108_1025-83delinsAAAAAAATTTTTTTCAAATAATTTT...