Canonical Allele Identifier: CA1034841286

Gene: EDAR RANBP2

Linked Data

• gnomAD v3: 2-108907654-A-AAACTC
• gnomAD v4: 2-108907654-A-AAACTC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907656_108907657insCTCAA , CM000664.2:g.108907656_108907657insCTCAA	GRCh38
NC_000002.11:g.109524112_109524113insCTCAA , CM000664.1:g.109524112_109524113insCTCAA	GRCh37
NC_000002.10:g.108890544_108890545insCTCAA	NCBI36
NG_008257.1:g.86718_86719insGAGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.963+205_963+206insGAGTT (EDAR) MANE Select	ENSP00000258443.2:n.963+205_963+206insGAGTT
ENST00000258443.6:c.963+205_963+206insGAGTT (EDAR)	ENSP00000258443.2:n.963+205_963+206insGAGTT
ENST00000376651.1:c.1059+205_1059+206insGAGTT (EDAR)	ENSP00000365839.1:n.1059+205_1059+206insGAGTT
ENST00000409271.5:c.1059+205_1059+206insGAGTT (EDAR)	ENSP00000386371.1:n.1059+205_1059+206insGAGTT
NM_022336.3:c.963+205_963+206insGAGTT (EDAR)	NP_071731.1:n.963+205_963+206insGAGTT
XM_006712204.1:c.1059+205_1059+206insGAGTT (EDAR)	XP_006712267.1:n.1059+205_1059+206insGAGTT
XM_011510502.1:c.1110+205_1110+206insGAGTT (EDAR)	XP_011508804.1:n.1110+205_1110+206insGAGTT
XM_011510503.1:c.1014+205_1014+206insGAGTT (EDAR)	XP_011508805.1:n.1014+205_1014+206insGAGTT
XM_011510504.1:c.390+205_390+206insGAGTT (EDAR)	XP_011508806.1:n.390+205_390+206insGAGTT
XM_011510502.2:c.1203+205_1203+206insGAGTT (EDAR)	XP_011508804.2:n.1203+205_1203+206insGAGTT
XM_011510503.2:c.1107+205_1107+206insGAGTT (EDAR)	XP_011508805.2:n.1107+205_1107+206insGAGTT
XM_017004623.2:c.8370+134610_8370+134611insCTCAA (RANBP2)	XP_016860112.1:n.8370+134610_8370+134611insCTCAA
NM_022336.4:c.963+205_963+206insGAGTT (EDAR) MANE Select	NP_071731.1:n.963+205_963+206insGAGTT