Canonical Allele Identifier: CA1278368443

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108929070_108929071delinsAG , CM000664.2:g.108929070_108929071delinsAG	GRCh38
NC_000002.11:g.109545526_109545527delinsAG , CM000664.1:g.109545526_109545527delinsAG	GRCh37
NC_000002.10:g.108911958_108911959delinsAG	NCBI36
NG_008257.1:g.65302_65303delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.356+127_356+128delinsCT (EDAR) MANE Select	ENSP00000258443.2:n.356+127_356+128delinsCT
ENST00000258443.6:c.356+127_356+128delinsCT (EDAR)	ENSP00000258443.2:n.356+127_356+128delinsCT
ENST00000376651.1:c.356+127_356+128delinsCT (EDAR)	ENSP00000365839.1:n.356+127_356+128delinsCT
ENST00000409271.5:c.356+127_356+128delinsCT (EDAR)	ENSP00000386371.1:n.356+127_356+128delinsCT
NM_022336.3:c.356+127_356+128delinsCT (EDAR)	NP_071731.1:n.356+127_356+128delinsCT
XM_006712204.1:c.356+127_356+128delinsCT (EDAR)	XP_006712267.1:n.356+127_356+128delinsCT
XM_011510502.1:c.407+127_407+128delinsCT (EDAR)	XP_011508804.1:n.407+127_407+128delinsCT
XM_011510503.1:c.407+127_407+128delinsCT (EDAR)	XP_011508805.1:n.407+127_407+128delinsCT
XM_011510502.2:c.500+127_500+128delinsCT (EDAR)	XP_011508804.2:n.500+127_500+128delinsCT
XM_011510503.2:c.500+127_500+128delinsCT (EDAR)	XP_011508805.2:n.500+127_500+128delinsCT
XM_017004623.2:c.8370+156024_8370+156025delinsAG (RANBP2)	XP_016860112.1:n.8370+156024_8370+156025delinsAG
NM_022336.4:c.356+127_356+128delinsCT (EDAR) MANE Select	NP_071731.1:n.356+127_356+128delinsCT