Canonical Allele Identifier: CA2586969741

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897106_108897109del , CM000664.2:g.108897106_108897109del	GRCh38
NC_000002.11:g.109513562_109513565del , CM000664.1:g.109513562_109513565del	GRCh37
NC_000002.10:g.108879994_108879997del	NCBI36
NG_008257.1:g.97265_97268del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1146_1149del (EDAR) MANE Select	ENSP00000258443.2:p.Leu383ArgfsTer8
ENST00000258443.6:c.1146_1149del (EDAR)	ENSP00000258443.2:p.Leu383ArgfsTer8
ENST00000376651.1:c.1242_1245del (EDAR)	ENSP00000365839.1:p.Leu415ArgfsTer8
ENST00000409271.5:c.1242_1245del (EDAR)	ENSP00000386371.1:p.Leu415ArgfsTer8
NM_022336.3:c.1146_1149del (EDAR)	NP_071731.1:p.Leu383ArgfsTer8
XM_006712204.1:c.1242_1245del (EDAR)	XP_006712267.1:p.Leu415ArgfsTer8
XM_011510502.1:c.1293_1296del (EDAR)	XP_011508804.1:p.Leu432ArgfsTer8
XM_011510503.1:c.1197_1200del (EDAR)	XP_011508805.1:p.Leu400ArgfsTer8
XM_011510504.1:c.573_576del (EDAR)	XP_011508806.1:p.Leu192ArgfsTer8
XM_011510502.2:c.1386_1389del (EDAR)	XP_011508804.2:p.Leu463ArgfsTer8
XM_011510503.2:c.1290_1293del (EDAR)	XP_011508805.2:p.Leu431ArgfsTer8
XM_017004623.2:c.8370+124060_8370+124063del (RANBP2)	XP_016860112.1:n.8370+124060_8370+124063del
NM_022336.4:c.1146_1149del (EDAR) MANE Select	NP_071731.1:p.Leu383ArgfsTer8