Canonical Allele Identifier: CA2660611673

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108931002-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108931005_108931006del , CM000664.2:g.108931005_108931006del	GRCh38
NC_000002.11:g.109547461_109547462del , CM000664.1:g.109547461_109547462del	GRCh37
NC_000002.10:g.108913893_108913894del	NCBI36
NG_008257.1:g.63369_63370del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.11_12del (EDAR) MANE Select	ENSP00000258443.2:p.Val4GlyfsTer29
ENST00000258443.6:c.11_12del (EDAR)	ENSP00000258443.2:p.Val4GlyfsTer29
ENST00000376651.1:c.11_12del (EDAR)	ENSP00000365839.1:p.Val4GlyfsTer29
ENST00000409271.5:c.11_12del (EDAR)	ENSP00000386371.1:p.Val4GlyfsTer29
NM_022336.3:c.11_12del (EDAR)	NP_071731.1:p.Val4GlyfsTer29
XM_006712204.1:c.11_12del (EDAR)	XP_006712267.1:p.Val4GlyfsTer29
XM_011510502.1:c.62_63del (EDAR)	XP_011508804.1:p.Val21GlyfsTer29
XM_011510503.1:c.62_63del (EDAR)	XP_011508805.1:p.Val21GlyfsTer29
XM_011510502.2:c.155_156del (EDAR)	XP_011508804.2:p.Val52GlyfsTer29
XM_011510503.2:c.155_156del (EDAR)	XP_011508805.2:p.Val52GlyfsTer29
XM_017004623.2:c.8370+157959_8370+157960del (RANBP2)	XP_016860112.1:n.8370+157959_8370+157960del
NM_022336.4:c.11_12del (EDAR) MANE Select	NP_071731.1:p.Val4GlyfsTer29