Canonical Allele Identifier: CA2839650000

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897045dup , CM000664.2:g.108897045dup	GRCh38
NC_000002.11:g.109513501dup , CM000664.1:g.109513501dup	GRCh37
NC_000002.10:g.108879933dup	NCBI36
NG_008257.1:g.97329dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1210dup (EDAR) MANE Select	ENSP00000258443.2:p.Ala404GlyfsTer7
ENST00000258443.6:c.1210dup (EDAR)	ENSP00000258443.2:p.Ala404GlyfsTer7
ENST00000376651.1:c.1306dup (EDAR)	ENSP00000365839.1:p.Ala436GlyfsTer7
ENST00000409271.5:c.1306dup (EDAR)	ENSP00000386371.1:p.Ala436GlyfsTer7
NM_022336.3:c.1210dup (EDAR)	NP_071731.1:p.Ala404GlyfsTer7
XM_006712204.1:c.1306dup (EDAR)	XP_006712267.1:p.Ala436GlyfsTer7
XM_011510502.1:c.1357dup (EDAR)	XP_011508804.1:p.Ala453GlyfsTer7
XM_011510503.1:c.1261dup (EDAR)	XP_011508805.1:p.Ala421GlyfsTer7
XM_011510504.1:c.637dup (EDAR)	XP_011508806.1:p.Ala213GlyfsTer7
XM_011510502.2:c.1450dup (EDAR)	XP_011508804.2:p.Ala484GlyfsTer7
XM_011510503.2:c.1354dup (EDAR)	XP_011508805.2:p.Ala452GlyfsTer7
XM_017004623.2:c.8370+123999dup (RANBP2)	XP_016860112.1:n.8370+123999dup
NM_022336.4:c.1210dup (EDAR) MANE Select	NP_071731.1:p.Ala404GlyfsTer7