Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897316_108897317insACCAAACACACCCAACACA , CM000664.2:g.108897316_108897317insACCAAACACACCCAACACA	GRCh38
NC_000002.11:g.109513772_109513773insACCAAACACACCCAACACA , CM000664.1:g.109513772_109513773insACCAAACACACCCAACACA	GRCh37
NC_000002.10:g.108880204_108880205insACCAAACACACCCAACACA	NCBI36
NG_008257.1:g.97057_97058insGTGTTGGGTGTGTTTGGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1025-87_1025-86insGTGTTGGGTGTGTTTGGTT (EDAR) MANE Select	ENSP00000258443.2:n.1025-87_1025-86insGTGTTGGGTGTGTTTGGTT
ENST00000258443.6:c.1025-87_1025-86insGTGTTGGGTGTGTTTGGTT (EDAR)	ENSP00000258443.2:n.1025-87_1025-86insGTGTTGGGTGTGTTTGGTT
ENST00000376651.1:c.1121-87_1121-86insGTGTTGGGTGTGTTTGGTT (EDAR)	ENSP00000365839.1:n.1121-87_1121-86insGTGTTGGGTGTGTTTGGTT
ENST00000409271.5:c.1121-87_1121-86insGTGTTGGGTGTGTTTGGTT (EDAR)	ENSP00000386371.1:n.1121-87_1121-86insGTGTTGGGTGTGTTTGGTT
NM_022336.3:c.1025-87_1025-86insGTGTTGGGTGTGTTTGGTT (EDAR)	NP_071731.1:n.1025-87_1025-86insGTGTTGGGTGTGTTTGGTT
XM_006712204.1:c.1121-87_1121-86insGTGTTGGGTGTGTTTGGTT (EDAR)	XP_006712267.1:n.1121-87_1121-86insGTGTTGGGTGTGTTTGGTT
XM_011510502.1:c.1172-87_1172-86insGTGTTGGGTGTGTTTGGTT (EDAR)	XP_011508804.1:n.1172-87_1172-86insGTGTTGGGTGTGTTTGGTT
XM_011510503.1:c.1076-87_1076-86insGTGTTGGGTGTGTTTGGTT (EDAR)	XP_011508805.1:n.1076-87_1076-86insGTGTTGGGTGTGTTTGGTT
XM_011510504.1:c.452-87_452-86insGTGTTGGGTGTGTTTGGTT (EDAR)	XP_011508806.1:n.452-87_452-86insGTGTTGGGTGTGTTTGGTT
XM_011510502.2:c.1265-87_1265-86insGTGTTGGGTGTGTTTGGTT (EDAR)	XP_011508804.2:n.1265-87_1265-86insGTGTTGGGTGTGTTTGGTT
XM_011510503.2:c.1169-87_1169-86insGTGTTGGGTGTGTTTGGTT (EDAR)	XP_011508805.2:n.1169-87_1169-86insGTGTTGGGTGTGTTTGGTT
XM_017004623.2:c.8370+124270_8370+124271insACCAAACACACCCAACACA (RANBP2)	XP_016860112.1:n.8370+124270_8370+124271insACCAAACACACCCAACAC...
NM_022336.4:c.1025-87_1025-86insGTGTTGGGTGTGTTTGGTT (EDAR) MANE Select	NP_071731.1:n.1025-87_1025-86insGTGTTGGGTGTGTTTGGTT