Canonical Allele Identifier: CA1278359000

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108908029_108908031delinsCAA , CM000664.2:g.108908029_108908031delinsCAA	GRCh38
NC_000002.11:g.109524485_109524487delinsCAA , CM000664.1:g.109524485_109524487delinsCAA	GRCh37
NC_000002.10:g.108890917_108890919delinsCAA	NCBI36
NG_008257.1:g.86342_86344delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.804-12_804-10delinsTTG (EDAR) MANE Select	ENSP00000258443.2:n.804-12_804-10delinsTTG
ENST00000258443.6:c.804-12_804-10delinsTTG (EDAR)	ENSP00000258443.2:n.804-12_804-10delinsTTG
ENST00000376651.1:c.900-12_900-10delinsTTG (EDAR)	ENSP00000365839.1:n.900-12_900-10delinsTTG
ENST00000409271.5:c.900-12_900-10delinsTTG (EDAR)	ENSP00000386371.1:n.900-12_900-10delinsTTG
NM_022336.3:c.804-12_804-10delinsTTG (EDAR)	NP_071731.1:n.804-12_804-10delinsTTG
XM_006712204.1:c.900-12_900-10delinsTTG (EDAR)	XP_006712267.1:n.900-12_900-10delinsTTG
XM_011510502.1:c.951-12_951-10delinsTTG (EDAR)	XP_011508804.1:n.951-12_951-10delinsTTG
XM_011510503.1:c.855-12_855-10delinsTTG (EDAR)	XP_011508805.1:n.855-12_855-10delinsTTG
XM_011510504.1:c.231-12_231-10delinsTTG (EDAR)	XP_011508806.1:n.231-12_231-10delinsTTG
XM_011510502.2:c.1044-12_1044-10delinsTTG (EDAR)	XP_011508804.2:n.1044-12_1044-10delinsTTG
XM_011510503.2:c.948-12_948-10delinsTTG (EDAR)	XP_011508805.2:n.948-12_948-10delinsTTG
XM_017004623.2:c.8370+134983_8370+134985delinsCAA (RANBP2)	XP_016860112.1:n.8370+134983_8370+134985delinsCAA
NM_022336.4:c.804-12_804-10delinsTTG (EDAR) MANE Select	NP_071731.1:n.804-12_804-10delinsTTG