Canonical Allele Identifier: CA1034841075

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1696827286
• gnomAD v3: 2-108907352-TAAAAAC-T
• gnomAD v4: 2-108907352-TAAAAAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907356_108907361del , CM000664.2:g.108907356_108907361del	GRCh38
NC_000002.11:g.109523812_109523817del , CM000664.1:g.109523812_109523817del	GRCh37
NC_000002.10:g.108890244_108890249del	NCBI36
NG_008257.1:g.87015_87020del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.963+502_963+507del (EDAR) MANE Select	ENSP00000258443.2:n.963+502_963+507del
ENST00000258443.6:c.963+502_963+507del (EDAR)	ENSP00000258443.2:n.963+502_963+507del
ENST00000376651.1:c.1059+502_1059+507del (EDAR)	ENSP00000365839.1:n.1059+502_1059+507del
ENST00000409271.5:c.1059+502_1059+507del (EDAR)	ENSP00000386371.1:n.1059+502_1059+507del
NM_022336.3:c.963+502_963+507del (EDAR)	NP_071731.1:n.963+502_963+507del
XM_006712204.1:c.1059+502_1059+507del (EDAR)	XP_006712267.1:n.1059+502_1059+507del
XM_011510502.1:c.1110+502_1110+507del (EDAR)	XP_011508804.1:n.1110+502_1110+507del
XM_011510503.1:c.1014+502_1014+507del (EDAR)	XP_011508805.1:n.1014+502_1014+507del
XM_011510504.1:c.390+502_390+507del (EDAR)	XP_011508806.1:n.390+502_390+507del
XM_011510502.2:c.1203+502_1203+507del (EDAR)	XP_011508804.2:n.1203+502_1203+507del
XM_011510503.2:c.1107+502_1107+507del (EDAR)	XP_011508805.2:n.1107+502_1107+507del
XM_017004623.2:c.8370+134310_8370+134315del (RANBP2)	XP_016860112.1:n.8370+134310_8370+134315del
NM_022336.4:c.963+502_963+507del (EDAR) MANE Select	NP_071731.1:n.963+502_963+507del