Canonical Allele Identifier: CA1278359106

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108908222_108908226delinsCCAAA , CM000664.2:g.108908222_108908226delinsCCAAA	GRCh38
NC_000002.11:g.109524678_109524682delinsCCAAA , CM000664.1:g.109524678_109524682delinsCCAAA	GRCh37
NC_000002.10:g.108891110_108891114delinsCCAAA	NCBI36
NG_008257.1:g.86147_86151delinsTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.804-207_804-203delinsTTTGG (EDAR) MANE Select	ENSP00000258443.2:n.804-207_804-203delinsTTTGG
ENST00000258443.6:c.804-207_804-203delinsTTTGG (EDAR)	ENSP00000258443.2:n.804-207_804-203delinsTTTGG
ENST00000376651.1:c.900-207_900-203delinsTTTGG (EDAR)	ENSP00000365839.1:n.900-207_900-203delinsTTTGG
ENST00000409271.5:c.900-207_900-203delinsTTTGG (EDAR)	ENSP00000386371.1:n.900-207_900-203delinsTTTGG
NM_022336.3:c.804-207_804-203delinsTTTGG (EDAR)	NP_071731.1:n.804-207_804-203delinsTTTGG
XM_006712204.1:c.900-207_900-203delinsTTTGG (EDAR)	XP_006712267.1:n.900-207_900-203delinsTTTGG
XM_011510502.1:c.951-207_951-203delinsTTTGG (EDAR)	XP_011508804.1:n.951-207_951-203delinsTTTGG
XM_011510503.1:c.855-207_855-203delinsTTTGG (EDAR)	XP_011508805.1:n.855-207_855-203delinsTTTGG
XM_011510504.1:c.231-207_231-203delinsTTTGG (EDAR)	XP_011508806.1:n.231-207_231-203delinsTTTGG
XM_011510502.2:c.1044-207_1044-203delinsTTTGG (EDAR)	XP_011508804.2:n.1044-207_1044-203delinsTTTGG
XM_011510503.2:c.948-207_948-203delinsTTTGG (EDAR)	XP_011508805.2:n.948-207_948-203delinsTTTGG
XM_017004623.2:c.8370+135176_8370+135180delinsCCAAA (RANBP2)	XP_016860112.1:n.8370+135176_8370+135180delinsCCAAA
NM_022336.4:c.804-207_804-203delinsTTTGG (EDAR) MANE Select	NP_071731.1:n.804-207_804-203delinsTTTGG