Canonical Allele Identifier: CA1034841064

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1696826945
• gnomAD v3: 2-108907326-T-TCGTTTTTGTGTATGAAGCTATA
• gnomAD v4: 2-108907326-T-TCGTTTTTGTGTATGAAGCTATA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907327_108907348dup , CM000664.2:g.108907327_108907348dup	GRCh38
NC_000002.11:g.109523783_109523804dup , CM000664.1:g.109523783_109523804dup	GRCh37
NC_000002.10:g.108890215_108890236dup	NCBI36
NG_008257.1:g.87025_87046dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.963+512_963+533dup (EDAR) MANE Select	ENSP00000258443.2:n.963+512_963+533dup
ENST00000258443.6:c.963+512_963+533dup (EDAR)	ENSP00000258443.2:n.963+512_963+533dup
ENST00000376651.1:c.1059+512_1059+533dup (EDAR)	ENSP00000365839.1:n.1059+512_1059+533dup
ENST00000409271.5:c.1059+512_1059+533dup (EDAR)	ENSP00000386371.1:n.1059+512_1059+533dup
NM_022336.3:c.963+512_963+533dup (EDAR)	NP_071731.1:n.963+512_963+533dup
XM_006712204.1:c.1059+512_1059+533dup (EDAR)	XP_006712267.1:n.1059+512_1059+533dup
XM_011510502.1:c.1110+512_1110+533dup (EDAR)	XP_011508804.1:n.1110+512_1110+533dup
XM_011510503.1:c.1014+512_1014+533dup (EDAR)	XP_011508805.1:n.1014+512_1014+533dup
XM_011510504.1:c.390+512_390+533dup (EDAR)	XP_011508806.1:n.390+512_390+533dup
XM_011510502.2:c.1203+512_1203+533dup (EDAR)	XP_011508804.2:n.1203+512_1203+533dup
XM_011510503.2:c.1107+512_1107+533dup (EDAR)	XP_011508805.2:n.1107+512_1107+533dup
XM_017004623.2:c.8370+134281_8370+134302dup (RANBP2)	XP_016860112.1:n.8370+134281_8370+134302dup
NM_022336.4:c.963+512_963+533dup (EDAR) MANE Select	NP_071731.1:n.963+512_963+533dup