Canonical Allele Identifier: CA1278354369

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897303_108897323delinsAAATGAAATAAAAATTATTTG , CM000664.2:g.108897303_108897323delinsAAATGAAATAAAAATTATTTG GRCh38
NC_000002.11:g.109513759_109513779delinsAAATGAAATAAAAATTATTTG , CM000664.1:g.109513759_109513779delinsAAATGAAATAAAAATTATTTG GRCh37
NC_000002.10:g.108880191_108880211delinsAAATGAAATAAAAATTATTTG NCBI36
NG_008257.1:g.97050_97070delinsCAAATAATTTTTATTTCATTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.1025-94_1025-74delinsCAAATAATTTTTATTTCATTT (EDAR) MANE Select ENSP00000258443.2:n.1025-94_1025-74delinsCAAATAATTTTTATTTCATT...
ENST00000258443.6:c.1025-94_1025-74delinsCAAATAATTTTTATTTCATTT (EDAR) ENSP00000258443.2:n.1025-94_1025-74delinsCAAATAATTTTTATTTCATT...
ENST00000376651.1:c.1121-94_1121-74delinsCAAATAATTTTTATTTCATTT (EDAR) ENSP00000365839.1:n.1121-94_1121-74delinsCAAATAATTTTTATTTCATT...
ENST00000409271.5:c.1121-94_1121-74delinsCAAATAATTTTTATTTCATTT (EDAR) ENSP00000386371.1:n.1121-94_1121-74delinsCAAATAATTTTTATTTCATT...
NM_022336.3:c.1025-94_1025-74delinsCAAATAATTTTTATTTCATTT (EDAR) NP_071731.1:n.1025-94_1025-74delinsCAAATAATTTTTATTTCATTT
XM_006712204.1:c.1121-94_1121-74delinsCAAATAATTTTTATTTCATTT (EDAR) XP_006712267.1:n.1121-94_1121-74delinsCAAATAATTTTTATTTCATTT
XM_011510502.1:c.1172-94_1172-74delinsCAAATAATTTTTATTTCATTT (EDAR) XP_011508804.1:n.1172-94_1172-74delinsCAAATAATTTTTATTTCATTT
XM_011510503.1:c.1076-94_1076-74delinsCAAATAATTTTTATTTCATTT (EDAR) XP_011508805.1:n.1076-94_1076-74delinsCAAATAATTTTTATTTCATTT
XM_011510504.1:c.452-94_452-74delinsCAAATAATTTTTATTTCATTT (EDAR) XP_011508806.1:n.452-94_452-74delinsCAAATAATTTTTATTTCATTT
XM_011510502.2:c.1265-94_1265-74delinsCAAATAATTTTTATTTCATTT (EDAR) XP_011508804.2:n.1265-94_1265-74delinsCAAATAATTTTTATTTCATTT
XM_011510503.2:c.1169-94_1169-74delinsCAAATAATTTTTATTTCATTT (EDAR) XP_011508805.2:n.1169-94_1169-74delinsCAAATAATTTTTATTTCATTT
XM_017004623.2:c.8370+124257_8370+124277delinsAAATGAAATAAAAATTATTTG (RANBP2) XP_016860112.1:n.8370+124257_8370+124277delinsAAATGAAATAAAAAT...
NM_022336.4:c.1025-94_1025-74delinsCAAATAATTTTTATTTCATTT (EDAR) MANE Select NP_071731.1:n.1025-94_1025-74delinsCAAATAATTTTTATTTCATTT