Canonical Allele Identifier: CA1278354045

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108896605_108896613delinsACATTGTCT , CM000664.2:g.108896605_108896613delinsACATTGTCT	GRCh38
NC_000002.11:g.109513061_109513069delinsACATTGTCT , CM000664.1:g.109513061_109513069delinsACATTGTCT	GRCh37
NC_000002.10:g.108879493_108879501delinsACATTGTCT	NCBI36
NG_008257.1:g.97760_97768delinsAGACAATGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.*294_*302delinsAGACAATGT (EDAR) MANE Select	ENSP00000258443.2:n.*294_*302delinsAGACAATGT
ENST00000258443.6:c.*294_*302delinsAGACAATGT (EDAR)	ENSP00000258443.2:n.*294_*302delinsAGACAATGT
ENST00000376651.1:c.*294_*302delinsAGACAATGT (EDAR)	ENSP00000365839.1:n.*294_*302delinsAGACAATGT
ENST00000409271.5:c.*294_*302delinsAGACAATGT (EDAR)	ENSP00000386371.1:n.*294_*302delinsAGACAATGT
NM_022336.3:c.*294_*302delinsAGACAATGT (EDAR)	NP_071731.1:n.*294_*302delinsAGACAATGT
XM_006712204.1:c.*294_*302delinsAGACAATGT (EDAR)	XP_006712267.1:n.*294_*302delinsAGACAATGT
XM_011510502.1:c.*294_*302delinsAGACAATGT (EDAR)	XP_011508804.1:n.*294_*302delinsAGACAATGT
XM_011510503.1:c.*294_*302delinsAGACAATGT (EDAR)	XP_011508805.1:n.*294_*302delinsAGACAATGT
XM_011510504.1:c.*294_*302delinsAGACAATGT (EDAR)	XP_011508806.1:n.*294_*302delinsAGACAATGT
XM_011510502.2:c.*294_*302delinsAGACAATGT (EDAR)	XP_011508804.2:n.*294_*302delinsAGACAATGT
XM_011510503.2:c.*294_*302delinsAGACAATGT (EDAR)	XP_011508805.2:n.*294_*302delinsAGACAATGT
XM_017004623.2:c.8370+123559_8370+123567delinsACATTGTCT (RANBP2)	XP_016860112.1:n.8370+123559_8370+123567delinsACATTGTCT
NM_022336.4:c.*294_*302delinsAGACAATGT (EDAR) MANE Select	NP_071731.1:n.*294_*302delinsAGACAATGT