Canonical Allele Identifier: CA2751631992

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897348_108897349insCCCCACACCAAACACACCCAACAC , CM000664.2:g.108897348_108897349insCCCCACACCAAACACACCCAACAC GRCh38
NC_000002.11:g.109513804_109513805insCCCCACACCAAACACACCCAACAC , CM000664.1:g.109513804_109513805insCCCCACACCAAACACACCCAACAC GRCh37
NC_000002.10:g.108880236_108880237insCCCCACACCAAACACACCCAACAC NCBI36
NG_008257.1:g.97024_97025insGTGTTGGGTGTGTTTGGTGTGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.1025-120_1025-119insGTGTTGGGTGTGTTTGGTGTGGGG (EDAR) MANE Select ENSP00000258443.2:n.1025-120_1025-119insGTGTTGGGTGTGTTTGGTGTG...
ENST00000258443.6:c.1025-120_1025-119insGTGTTGGGTGTGTTTGGTGTGGGG (EDAR) ENSP00000258443.2:n.1025-120_1025-119insGTGTTGGGTGTGTTTGGTGTG...
ENST00000376651.1:c.1121-120_1121-119insGTGTTGGGTGTGTTTGGTGTGGGG (EDAR) ENSP00000365839.1:n.1121-120_1121-119insGTGTTGGGTGTGTTTGGTGTG...
ENST00000409271.5:c.1121-120_1121-119insGTGTTGGGTGTGTTTGGTGTGGGG (EDAR) ENSP00000386371.1:n.1121-120_1121-119insGTGTTGGGTGTGTTTGGTGTG...
NM_022336.3:c.1025-120_1025-119insGTGTTGGGTGTGTTTGGTGTGGGG (EDAR) NP_071731.1:n.1025-120_1025-119insGTGTTGGGTGTGTTTGGTGTGGGG
XM_006712204.1:c.1121-120_1121-119insGTGTTGGGTGTGTTTGGTGTGGGG (EDAR) XP_006712267.1:n.1121-120_1121-119insGTGTTGGGTGTGTTTGGTGTGGGG...
XM_011510502.1:c.1172-120_1172-119insGTGTTGGGTGTGTTTGGTGTGGGG (EDAR) XP_011508804.1:n.1172-120_1172-119insGTGTTGGGTGTGTTTGGTGTGGGG...
XM_011510503.1:c.1076-120_1076-119insGTGTTGGGTGTGTTTGGTGTGGGG (EDAR) XP_011508805.1:n.1076-120_1076-119insGTGTTGGGTGTGTTTGGTGTGGGG...
XM_011510504.1:c.452-120_452-119insGTGTTGGGTGTGTTTGGTGTGGGG (EDAR) XP_011508806.1:n.452-120_452-119insGTGTTGGGTGTGTTTGGTGTGGGG
XM_011510502.2:c.1265-120_1265-119insGTGTTGGGTGTGTTTGGTGTGGGG (EDAR) XP_011508804.2:n.1265-120_1265-119insGTGTTGGGTGTGTTTGGTGTGGGG...
XM_011510503.2:c.1169-120_1169-119insGTGTTGGGTGTGTTTGGTGTGGGG (EDAR) XP_011508805.2:n.1169-120_1169-119insGTGTTGGGTGTGTTTGGTGTGGGG...
XM_017004623.2:c.8370+124302_8370+124303insCCCCACACCAAACACACCCAACAC (RANBP2) XP_016860112.1:n.8370+124302_8370+124303insCCCCACACCAAACACACC...
NM_022336.4:c.1025-120_1025-119insGTGTTGGGTGTGTTTGGTGTGGGG (EDAR) MANE Select NP_071731.1:n.1025-120_1025-119insGTGTTGGGTGTGTTTGGTGTGGGG