Canonical Allele Identifier: CA1034841278

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs11306434
• gnomAD v3: 2-108907649-CAAA-C
• gnomAD v4: 2-108907649-CAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907659_108907661del , CM000664.2:g.108907659_108907661del	GRCh38
NC_000002.11:g.109524115_109524117del , CM000664.1:g.109524115_109524117del	GRCh37
NC_000002.10:g.108890547_108890549del	NCBI36
NG_008257.1:g.86721_86723del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.963+208_963+210del (EDAR) MANE Select	ENSP00000258443.2:n.963+208_963+210del
ENST00000258443.6:c.963+208_963+210del (EDAR)	ENSP00000258443.2:n.963+208_963+210del
ENST00000376651.1:c.1059+208_1059+210del (EDAR)	ENSP00000365839.1:n.1059+208_1059+210del
ENST00000409271.5:c.1059+208_1059+210del (EDAR)	ENSP00000386371.1:n.1059+208_1059+210del
NM_022336.3:c.963+208_963+210del (EDAR)	NP_071731.1:n.963+208_963+210del
XM_006712204.1:c.1059+208_1059+210del (EDAR)	XP_006712267.1:n.1059+208_1059+210del
XM_011510502.1:c.1110+208_1110+210del (EDAR)	XP_011508804.1:n.1110+208_1110+210del
XM_011510503.1:c.1014+208_1014+210del (EDAR)	XP_011508805.1:n.1014+208_1014+210del
XM_011510504.1:c.390+208_390+210del (EDAR)	XP_011508806.1:n.390+208_390+210del
XM_011510502.2:c.1203+208_1203+210del (EDAR)	XP_011508804.2:n.1203+208_1203+210del
XM_011510503.2:c.1107+208_1107+210del (EDAR)	XP_011508805.2:n.1107+208_1107+210del
XM_017004623.2:c.8370+134613_8370+134615del (RANBP2)	XP_016860112.1:n.8370+134613_8370+134615del
NM_022336.4:c.963+208_963+210del (EDAR) MANE Select	NP_071731.1:n.963+208_963+210del