Canonical Allele Identifier: CA913190037

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 633838
• ClinVar RCV Id: RCV000782363
• dbSNP Id: rs1558814135

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108929347delinsAA , CM000664.2:g.108929347delinsAA	GRCh38
NC_000002.11:g.109545803delinsAA , CM000664.1:g.109545803delinsAA	GRCh37
NC_000002.10:g.108912235delinsAA	NCBI36
NG_008257.1:g.65026delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.207delinsTT (EDAR) MANE Select	ENSP00000258443.2:p.Gly70TrpfsTer25
ENST00000258443.6:c.207delinsTT (EDAR)	ENSP00000258443.2:p.Gly70TrpfsTer25
ENST00000376651.1:c.207delinsTT (EDAR)	ENSP00000365839.1:p.Gly70TrpfsTer25
ENST00000409271.5:c.207delinsTT (EDAR)	ENSP00000386371.1:p.Gly70TrpfsTer25
NM_022336.3:c.207delinsTT (EDAR)	NP_071731.1:p.Gly70TrpfsTer25
XM_006712204.1:c.207delinsTT (EDAR)	XP_006712267.1:p.Gly70TrpfsTer25
XM_011510502.1:c.258delinsTT (EDAR)	XP_011508804.1:p.Gly87TrpfsTer25
XM_011510503.1:c.258delinsTT (EDAR)	XP_011508805.1:p.Gly87TrpfsTer25
XM_011510502.2:c.351delinsTT (EDAR)	XP_011508804.2:p.Gly118TrpfsTer25
XM_011510503.2:c.351delinsTT (EDAR)	XP_011508805.2:p.Gly118TrpfsTer25
XM_017004623.2:c.8370+156301delinsAA (RANBP2)	XP_016860112.1:n.8370+156301delinsAA
NM_022336.4:c.207delinsTT (EDAR) MANE Select	NP_071731.1:p.Gly70TrpfsTer25