Canonical Allele Identifier: CA2660611275

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108929221-A-AGC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108929223_108929224dup , CM000664.2:g.108929223_108929224dup	GRCh38
NC_000002.11:g.109545679_109545680dup , CM000664.1:g.109545679_109545680dup	GRCh37
NC_000002.10:g.108912111_108912112dup	NCBI36
NG_008257.1:g.65150_65151dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.331_332dup (EDAR) MANE Select	ENSP00000258443.2:p.Glu112LeufsTer?
ENST00000258443.6:c.331_332dup (EDAR)	ENSP00000258443.2:p.Glu112LeufsTer?
ENST00000376651.1:c.331_332dup (EDAR)	ENSP00000365839.1:p.Glu112LeufsTer?
ENST00000409271.5:c.331_332dup (EDAR)	ENSP00000386371.1:p.Glu112LeufsTer?
NM_022336.3:c.331_332dup (EDAR)	NP_071731.1:p.Glu112LeufsTer?
XM_006712204.1:c.331_332dup (EDAR)	XP_006712267.1:p.Glu112LeufsTer?
XM_011510502.1:c.382_383dup (EDAR)	XP_011508804.1:p.Glu129LeufsTer?
XM_011510503.1:c.382_383dup (EDAR)	XP_011508805.1:p.Glu129LeufsTer?
XM_011510502.2:c.475_476dup (EDAR)	XP_011508804.2:p.Glu160LeufsTer?
XM_011510503.2:c.475_476dup (EDAR)	XP_011508805.2:p.Glu160LeufsTer?
XM_017004623.2:c.8370+156177_8370+156178dup (RANBP2)	XP_016860112.1:n.8370+156177_8370+156178dup
NM_022336.4:c.331_332dup (EDAR) MANE Select	NP_071731.1:p.Glu112LeufsTer?