Canonical Allele Identifier: CA2586969742

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897172del , CM000664.2:g.108897172del	GRCh38
NC_000002.11:g.109513628del , CM000664.1:g.109513628del	GRCh37
NC_000002.10:g.108880060del	NCBI36
NG_008257.1:g.97201del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1082del (EDAR) MANE Select	ENSP00000258443.2:p.Ser361ThrfsTer11
ENST00000258443.6:c.1082del (EDAR)	ENSP00000258443.2:p.Ser361ThrfsTer11
ENST00000376651.1:c.1178del (EDAR)	ENSP00000365839.1:p.Ser393ThrfsTer11
ENST00000409271.5:c.1178del (EDAR)	ENSP00000386371.1:p.Ser393ThrfsTer11
NM_022336.3:c.1082del (EDAR)	NP_071731.1:p.Ser361ThrfsTer11
XM_006712204.1:c.1178del (EDAR)	XP_006712267.1:p.Ser393ThrfsTer11
XM_011510502.1:c.1229del (EDAR)	XP_011508804.1:p.Ser410ThrfsTer11
XM_011510503.1:c.1133del (EDAR)	XP_011508805.1:p.Ser378ThrfsTer11
XM_011510504.1:c.509del (EDAR)	XP_011508806.1:p.Ser170ThrfsTer11
XM_011510502.2:c.1322del (EDAR)	XP_011508804.2:p.Ser441ThrfsTer11
XM_011510503.2:c.1226del (EDAR)	XP_011508805.2:p.Ser409ThrfsTer11
XM_017004623.2:c.8370+124126del (RANBP2)	XP_016860112.1:n.8370+124126del
NM_022336.4:c.1082del (EDAR) MANE Select	NP_071731.1:p.Ser361ThrfsTer11