Canonical Allele Identifier: CA1278358659

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907332_108907334delinsTTG , CM000664.2:g.108907332_108907334delinsTTG	GRCh38
NC_000002.11:g.109523788_109523790delinsTTG , CM000664.1:g.109523788_109523790delinsTTG	GRCh37
NC_000002.10:g.108890220_108890222delinsTTG	NCBI36
NG_008257.1:g.87039_87041delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.963+526_963+528delinsCAA (EDAR) MANE Select	ENSP00000258443.2:n.963+526_963+528delinsCAA
ENST00000258443.6:c.963+526_963+528delinsCAA (EDAR)	ENSP00000258443.2:n.963+526_963+528delinsCAA
ENST00000376651.1:c.1059+526_1059+528delinsCAA (EDAR)	ENSP00000365839.1:n.1059+526_1059+528delinsCAA
ENST00000409271.5:c.1059+526_1059+528delinsCAA (EDAR)	ENSP00000386371.1:n.1059+526_1059+528delinsCAA
NM_022336.3:c.963+526_963+528delinsCAA (EDAR)	NP_071731.1:n.963+526_963+528delinsCAA
XM_006712204.1:c.1059+526_1059+528delinsCAA (EDAR)	XP_006712267.1:n.1059+526_1059+528delinsCAA
XM_011510502.1:c.1110+526_1110+528delinsCAA (EDAR)	XP_011508804.1:n.1110+526_1110+528delinsCAA
XM_011510503.1:c.1014+526_1014+528delinsCAA (EDAR)	XP_011508805.1:n.1014+526_1014+528delinsCAA
XM_011510504.1:c.390+526_390+528delinsCAA (EDAR)	XP_011508806.1:n.390+526_390+528delinsCAA
XM_011510502.2:c.1203+526_1203+528delinsCAA (EDAR)	XP_011508804.2:n.1203+526_1203+528delinsCAA
XM_011510503.2:c.1107+526_1107+528delinsCAA (EDAR)	XP_011508805.2:n.1107+526_1107+528delinsCAA
XM_017004623.2:c.8370+134286_8370+134288delinsTTG (RANBP2)	XP_016860112.1:n.8370+134286_8370+134288delinsTTG
NM_022336.4:c.963+526_963+528delinsCAA (EDAR) MANE Select	NP_071731.1:n.963+526_963+528delinsCAA