Canonical Allele Identifier: CA1034841326

Gene: EDAR RANBP2

Linked Data

• gnomAD v3: 2-108907696-TGAC-T
• gnomAD v4: 2-108907696-TGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907697_108907699del , CM000664.2:g.108907697_108907699del	GRCh38
NC_000002.11:g.109524153_109524155del , CM000664.1:g.109524153_109524155del	GRCh37
NC_000002.10:g.108890585_108890587del	NCBI36
NG_008257.1:g.86674_86676del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.963+161_963+163del (EDAR) MANE Select	ENSP00000258443.2:n.963+161_963+163del
ENST00000258443.6:c.963+161_963+163del (EDAR)	ENSP00000258443.2:n.963+161_963+163del
ENST00000376651.1:c.1059+161_1059+163del (EDAR)	ENSP00000365839.1:n.1059+161_1059+163del
ENST00000409271.5:c.1059+161_1059+163del (EDAR)	ENSP00000386371.1:n.1059+161_1059+163del
NM_022336.3:c.963+161_963+163del (EDAR)	NP_071731.1:n.963+161_963+163del
XM_006712204.1:c.1059+161_1059+163del (EDAR)	XP_006712267.1:n.1059+161_1059+163del
XM_011510502.1:c.1110+161_1110+163del (EDAR)	XP_011508804.1:n.1110+161_1110+163del
XM_011510503.1:c.1014+161_1014+163del (EDAR)	XP_011508805.1:n.1014+161_1014+163del
XM_011510504.1:c.390+161_390+163del (EDAR)	XP_011508806.1:n.390+161_390+163del
XM_011510502.2:c.1203+161_1203+163del (EDAR)	XP_011508804.2:n.1203+161_1203+163del
XM_011510503.2:c.1107+161_1107+163del (EDAR)	XP_011508805.2:n.1107+161_1107+163del
XM_017004623.2:c.8370+134651_8370+134653del (RANBP2)	XP_016860112.1:n.8370+134651_8370+134653del
NM_022336.4:c.963+161_963+163del (EDAR) MANE Select	NP_071731.1:n.963+161_963+163del