Canonical Allele Identifier: CA2740095682

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 2947031
• ClinVar RCV Id: RCV003801221

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897075_108897086del , CM000664.2:g.108897075_108897086del	GRCh38
NC_000002.11:g.109513531_109513542del , CM000664.1:g.109513531_109513542del	GRCh37
NC_000002.10:g.108879963_108879974del	NCBI36
NG_008257.1:g.97293_97304del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1174_1185del (EDAR) MANE Select	ENSP00000258443.2:p.Thr392_Met395del
ENST00000258443.6:c.1174_1185del (EDAR)	ENSP00000258443.2:p.Thr392_Met395del
ENST00000376651.1:c.1270_1281del (EDAR)	ENSP00000365839.1:p.Thr424_Met427del
ENST00000409271.5:c.1270_1281del (EDAR)	ENSP00000386371.1:p.Thr424_Met427del
NM_022336.3:c.1174_1185del (EDAR)	NP_071731.1:p.Thr392_Met395del
XM_006712204.1:c.1270_1281del (EDAR)	XP_006712267.1:p.Thr424_Met427del
XM_011510502.1:c.1321_1332del (EDAR)	XP_011508804.1:p.Thr441_Met444del
XM_011510503.1:c.1225_1236del (EDAR)	XP_011508805.1:p.Thr409_Met412del
XM_011510504.1:c.601_612del (EDAR)	XP_011508806.1:p.Thr201_Met204del
XM_011510502.2:c.1414_1425del (EDAR)	XP_011508804.2:p.Thr472_Met475del
XM_011510503.2:c.1318_1329del (EDAR)	XP_011508805.2:p.Thr440_Met443del
XM_017004623.2:c.8370+124029_8370+124040del (RANBP2)	XP_016860112.1:n.8370+124029_8370+124040del
NM_022336.4:c.1174_1185del (EDAR) MANE Select	NP_071731.1:p.Thr392_Met395del