Canonical Allele Identifier: CA1278358812

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907649_108907652delinsCAAA , CM000664.2:g.108907649_108907652delinsCAAA	GRCh38
NC_000002.11:g.109524105_109524108delinsCAAA , CM000664.1:g.109524105_109524108delinsCAAA	GRCh37
NC_000002.10:g.108890537_108890540delinsCAAA	NCBI36
NG_008257.1:g.86721_86724delinsTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.963+208_963+211delinsTTTG (EDAR) MANE Select	ENSP00000258443.2:n.963+208_963+211delinsTTTG
ENST00000258443.6:c.963+208_963+211delinsTTTG (EDAR)	ENSP00000258443.2:n.963+208_963+211delinsTTTG
ENST00000376651.1:c.1059+208_1059+211delinsTTTG (EDAR)	ENSP00000365839.1:n.1059+208_1059+211delinsTTTG
ENST00000409271.5:c.1059+208_1059+211delinsTTTG (EDAR)	ENSP00000386371.1:n.1059+208_1059+211delinsTTTG
NM_022336.3:c.963+208_963+211delinsTTTG (EDAR)	NP_071731.1:n.963+208_963+211delinsTTTG
XM_006712204.1:c.1059+208_1059+211delinsTTTG (EDAR)	XP_006712267.1:n.1059+208_1059+211delinsTTTG
XM_011510502.1:c.1110+208_1110+211delinsTTTG (EDAR)	XP_011508804.1:n.1110+208_1110+211delinsTTTG
XM_011510503.1:c.1014+208_1014+211delinsTTTG (EDAR)	XP_011508805.1:n.1014+208_1014+211delinsTTTG
XM_011510504.1:c.390+208_390+211delinsTTTG (EDAR)	XP_011508806.1:n.390+208_390+211delinsTTTG
XM_011510502.2:c.1203+208_1203+211delinsTTTG (EDAR)	XP_011508804.2:n.1203+208_1203+211delinsTTTG
XM_011510503.2:c.1107+208_1107+211delinsTTTG (EDAR)	XP_011508805.2:n.1107+208_1107+211delinsTTTG
XM_017004623.2:c.8370+134603_8370+134606delinsCAAA (RANBP2)	XP_016860112.1:n.8370+134603_8370+134606delinsCAAA
NM_022336.4:c.963+208_963+211delinsTTTG (EDAR) MANE Select	NP_071731.1:n.963+208_963+211delinsTTTG