Canonical Allele Identifier: CA2660611672

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108930965-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108930967del , CM000664.2:g.108930967del	GRCh38
NC_000002.11:g.109547423del , CM000664.1:g.109547423del	GRCh37
NC_000002.10:g.108913855del	NCBI36
NG_008257.1:g.63407del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.49del (EDAR) MANE Select	ENSP00000258443.2:p.Val17TrpfsTer4
ENST00000258443.6:c.49del (EDAR)	ENSP00000258443.2:p.Val17TrpfsTer4
ENST00000376651.1:c.49del (EDAR)	ENSP00000365839.1:p.Val17TrpfsTer4
ENST00000409271.5:c.49del (EDAR)	ENSP00000386371.1:p.Val17TrpfsTer4
NM_022336.3:c.49del (EDAR)	NP_071731.1:p.Val17TrpfsTer4
XM_006712204.1:c.49del (EDAR)	XP_006712267.1:p.Val17TrpfsTer4
XM_011510502.1:c.100del (EDAR)	XP_011508804.1:p.Val34TrpfsTer4
XM_011510503.1:c.100del (EDAR)	XP_011508805.1:p.Val34TrpfsTer4
XM_011510502.2:c.193del (EDAR)	XP_011508804.2:p.Val65TrpfsTer4
XM_011510503.2:c.193del (EDAR)	XP_011508805.2:p.Val65TrpfsTer4
XM_017004623.2:c.8370+157921del (RANBP2)	XP_016860112.1:n.8370+157921del
NM_022336.4:c.49del (EDAR) MANE Select	NP_071731.1:p.Val17TrpfsTer4