Canonical Allele Identifier: CA1278358821

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907660_108907662delinsAAC , CM000664.2:g.108907660_108907662delinsAAC	GRCh38
NC_000002.11:g.109524116_109524118delinsAAC , CM000664.1:g.109524116_109524118delinsAAC	GRCh37
NC_000002.10:g.108890548_108890550delinsAAC	NCBI36
NG_008257.1:g.86711_86713delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.963+198_963+200delinsGTT (EDAR) MANE Select	ENSP00000258443.2:n.963+198_963+200delinsGTT
ENST00000258443.6:c.963+198_963+200delinsGTT (EDAR)	ENSP00000258443.2:n.963+198_963+200delinsGTT
ENST00000376651.1:c.1059+198_1059+200delinsGTT (EDAR)	ENSP00000365839.1:n.1059+198_1059+200delinsGTT
ENST00000409271.5:c.1059+198_1059+200delinsGTT (EDAR)	ENSP00000386371.1:n.1059+198_1059+200delinsGTT
NM_022336.3:c.963+198_963+200delinsGTT (EDAR)	NP_071731.1:n.963+198_963+200delinsGTT
XM_006712204.1:c.1059+198_1059+200delinsGTT (EDAR)	XP_006712267.1:n.1059+198_1059+200delinsGTT
XM_011510502.1:c.1110+198_1110+200delinsGTT (EDAR)	XP_011508804.1:n.1110+198_1110+200delinsGTT
XM_011510503.1:c.1014+198_1014+200delinsGTT (EDAR)	XP_011508805.1:n.1014+198_1014+200delinsGTT
XM_011510504.1:c.390+198_390+200delinsGTT (EDAR)	XP_011508806.1:n.390+198_390+200delinsGTT
XM_011510502.2:c.1203+198_1203+200delinsGTT (EDAR)	XP_011508804.2:n.1203+198_1203+200delinsGTT
XM_011510503.2:c.1107+198_1107+200delinsGTT (EDAR)	XP_011508805.2:n.1107+198_1107+200delinsGTT
XM_017004623.2:c.8370+134614_8370+134616delinsAAC (RANBP2)	XP_016860112.1:n.8370+134614_8370+134616delinsAAC
NM_022336.4:c.963+198_963+200delinsGTT (EDAR) MANE Select	NP_071731.1:n.963+198_963+200delinsGTT