Canonical Allele Identifier: CA2751632627

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108908070_108908084del , CM000664.2:g.108908070_108908084del	GRCh38
NC_000002.11:g.109524526_109524540del , CM000664.1:g.109524526_109524540del	GRCh37
NC_000002.10:g.108890958_108890972del	NCBI36
NG_008257.1:g.86290_86304del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.804-64_804-50del (EDAR) MANE Select	ENSP00000258443.2:n.804-64_804-50del
ENST00000258443.6:c.804-64_804-50del (EDAR)	ENSP00000258443.2:n.804-64_804-50del
ENST00000376651.1:c.900-64_900-50del (EDAR)	ENSP00000365839.1:n.900-64_900-50del
ENST00000409271.5:c.900-64_900-50del (EDAR)	ENSP00000386371.1:n.900-64_900-50del
NM_022336.3:c.804-64_804-50del (EDAR)	NP_071731.1:n.804-64_804-50del
XM_006712204.1:c.900-64_900-50del (EDAR)	XP_006712267.1:n.900-64_900-50del
XM_011510502.1:c.951-64_951-50del (EDAR)	XP_011508804.1:n.951-64_951-50del
XM_011510503.1:c.855-64_855-50del (EDAR)	XP_011508805.1:n.855-64_855-50del
XM_011510504.1:c.231-64_231-50del (EDAR)	XP_011508806.1:n.231-64_231-50del
XM_011510502.2:c.1044-64_1044-50del (EDAR)	XP_011508804.2:n.1044-64_1044-50del
XM_011510503.2:c.948-64_948-50del (EDAR)	XP_011508805.2:n.948-64_948-50del
XM_017004623.2:c.8370+135024_8370+135038del (RANBP2)	XP_016860112.1:n.8370+135024_8370+135038del
NM_022336.4:c.804-64_804-50del (EDAR) MANE Select	NP_071731.1:n.804-64_804-50del