Canonical Allele Identifier: CA1278358829

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907666_108907668delinsACT , CM000664.2:g.108907666_108907668delinsACT	GRCh38
NC_000002.11:g.109524122_109524124delinsACT , CM000664.1:g.109524122_109524124delinsACT	GRCh37
NC_000002.10:g.108890554_108890556delinsACT	NCBI36
NG_008257.1:g.86705_86707delinsAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.963+192_963+194delinsAGT (EDAR) MANE Select	ENSP00000258443.2:n.963+192_963+194delinsAGT
ENST00000258443.6:c.963+192_963+194delinsAGT (EDAR)	ENSP00000258443.2:n.963+192_963+194delinsAGT
ENST00000376651.1:c.1059+192_1059+194delinsAGT (EDAR)	ENSP00000365839.1:n.1059+192_1059+194delinsAGT
ENST00000409271.5:c.1059+192_1059+194delinsAGT (EDAR)	ENSP00000386371.1:n.1059+192_1059+194delinsAGT
NM_022336.3:c.963+192_963+194delinsAGT (EDAR)	NP_071731.1:n.963+192_963+194delinsAGT
XM_006712204.1:c.1059+192_1059+194delinsAGT (EDAR)	XP_006712267.1:n.1059+192_1059+194delinsAGT
XM_011510502.1:c.1110+192_1110+194delinsAGT (EDAR)	XP_011508804.1:n.1110+192_1110+194delinsAGT
XM_011510503.1:c.1014+192_1014+194delinsAGT (EDAR)	XP_011508805.1:n.1014+192_1014+194delinsAGT
XM_011510504.1:c.390+192_390+194delinsAGT (EDAR)	XP_011508806.1:n.390+192_390+194delinsAGT
XM_011510502.2:c.1203+192_1203+194delinsAGT (EDAR)	XP_011508804.2:n.1203+192_1203+194delinsAGT
XM_011510503.2:c.1107+192_1107+194delinsAGT (EDAR)	XP_011508805.2:n.1107+192_1107+194delinsAGT
XM_017004623.2:c.8370+134620_8370+134622delinsACT (RANBP2)	XP_016860112.1:n.8370+134620_8370+134622delinsACT
NM_022336.4:c.963+192_963+194delinsAGT (EDAR) MANE Select	NP_071731.1:n.963+192_963+194delinsAGT