Canonical Allele Identifier: CA1278359122

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1696850533

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108908261_108908267del , CM000664.2:g.108908261_108908267del	GRCh38
NC_000002.11:g.109524717_109524723del , CM000664.1:g.109524717_109524723del	GRCh37
NC_000002.10:g.108891149_108891155del	NCBI36
NG_008257.1:g.86106_86112del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.804-248_804-242del (EDAR) MANE Select	ENSP00000258443.2:n.804-248_804-242del
ENST00000258443.6:c.804-248_804-242del (EDAR)	ENSP00000258443.2:n.804-248_804-242del
ENST00000376651.1:c.900-248_900-242del (EDAR)	ENSP00000365839.1:n.900-248_900-242del
ENST00000409271.5:c.900-248_900-242del (EDAR)	ENSP00000386371.1:n.900-248_900-242del
NM_022336.3:c.804-248_804-242del (EDAR)	NP_071731.1:n.804-248_804-242del
XM_006712204.1:c.900-248_900-242del (EDAR)	XP_006712267.1:n.900-248_900-242del
XM_011510502.1:c.951-248_951-242del (EDAR)	XP_011508804.1:n.951-248_951-242del
XM_011510503.1:c.855-248_855-242del (EDAR)	XP_011508805.1:n.855-248_855-242del
XM_011510504.1:c.231-248_231-242del (EDAR)	XP_011508806.1:n.231-248_231-242del
XM_011510502.2:c.1044-248_1044-242del (EDAR)	XP_011508804.2:n.1044-248_1044-242del
XM_011510503.2:c.948-248_948-242del (EDAR)	XP_011508805.2:n.948-248_948-242del
XM_017004623.2:c.8370+135215_8370+135221del (RANBP2)	XP_016860112.1:n.8370+135215_8370+135221del
NM_022336.4:c.804-248_804-242del (EDAR) MANE Select	NP_071731.1:n.804-248_804-242del