Canonical Allele Identifier: CA916082193

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 859573
• ClinVar RCV Id: RCV001065716
• dbSNP Id: rs1558793621

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897089del , CM000664.2:g.108897089del	GRCh38
NC_000002.11:g.109513545del , CM000664.1:g.109513545del	GRCh37
NC_000002.10:g.108879977del	NCBI36
NG_008257.1:g.97288del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1169del (EDAR) MANE Select	ENSP00000258443.2:p.Gly390AlafsTer2
ENST00000258443.6:c.1169del (EDAR)	ENSP00000258443.2:p.Gly390AlafsTer2
ENST00000376651.1:c.1265del (EDAR)	ENSP00000365839.1:p.Gly422AlafsTer2
ENST00000409271.5:c.1265del (EDAR)	ENSP00000386371.1:p.Gly422AlafsTer2
NM_022336.3:c.1169del (EDAR)	NP_071731.1:p.Gly390AlafsTer2
XM_006712204.1:c.1265del (EDAR)	XP_006712267.1:p.Gly422AlafsTer2
XM_011510502.1:c.1316del (EDAR)	XP_011508804.1:p.Gly439AlafsTer2
XM_011510503.1:c.1220del (EDAR)	XP_011508805.1:p.Gly407AlafsTer2
XM_011510504.1:c.596del (EDAR)	XP_011508806.1:p.Gly199AlafsTer2
XM_011510502.2:c.1409del (EDAR)	XP_011508804.2:p.Gly470AlafsTer2
XM_011510503.2:c.1313del (EDAR)	XP_011508805.2:p.Gly438AlafsTer2
XM_017004623.2:c.8370+124043del (RANBP2)	XP_016860112.1:n.8370+124043del
NM_022336.4:c.1169del (EDAR) MANE Select	NP_071731.1:p.Gly390AlafsTer2