Canonical Allele Identifier: CA1278359121

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108908260_108908267delinsCTAAGGGG , CM000664.2:g.108908260_108908267delinsCTAAGGGG	GRCh38
NC_000002.11:g.109524716_109524723delinsCTAAGGGG , CM000664.1:g.109524716_109524723delinsCTAAGGGG	GRCh37
NC_000002.10:g.108891148_108891155delinsCTAAGGGG	NCBI36
NG_008257.1:g.86106_86113delinsCCCCTTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.804-248_804-241delinsCCCCTTAG (EDAR) MANE Select	ENSP00000258443.2:n.804-248_804-241delinsCCCCTTAG
ENST00000258443.6:c.804-248_804-241delinsCCCCTTAG (EDAR)	ENSP00000258443.2:n.804-248_804-241delinsCCCCTTAG
ENST00000376651.1:c.900-248_900-241delinsCCCCTTAG (EDAR)	ENSP00000365839.1:n.900-248_900-241delinsCCCCTTAG
ENST00000409271.5:c.900-248_900-241delinsCCCCTTAG (EDAR)	ENSP00000386371.1:n.900-248_900-241delinsCCCCTTAG
NM_022336.3:c.804-248_804-241delinsCCCCTTAG (EDAR)	NP_071731.1:n.804-248_804-241delinsCCCCTTAG
XM_006712204.1:c.900-248_900-241delinsCCCCTTAG (EDAR)	XP_006712267.1:n.900-248_900-241delinsCCCCTTAG
XM_011510502.1:c.951-248_951-241delinsCCCCTTAG (EDAR)	XP_011508804.1:n.951-248_951-241delinsCCCCTTAG
XM_011510503.1:c.855-248_855-241delinsCCCCTTAG (EDAR)	XP_011508805.1:n.855-248_855-241delinsCCCCTTAG
XM_011510504.1:c.231-248_231-241delinsCCCCTTAG (EDAR)	XP_011508806.1:n.231-248_231-241delinsCCCCTTAG
XM_011510502.2:c.1044-248_1044-241delinsCCCCTTAG (EDAR)	XP_011508804.2:n.1044-248_1044-241delinsCCCCTTAG
XM_011510503.2:c.948-248_948-241delinsCCCCTTAG (EDAR)	XP_011508805.2:n.948-248_948-241delinsCCCCTTAG
XM_017004623.2:c.8370+135214_8370+135221delinsCTAAGGGG (RANBP2)	XP_016860112.1:n.8370+135214_8370+135221delinsCTAAGGGG
NM_022336.4:c.804-248_804-241delinsCCCCTTAG (EDAR) MANE Select	NP_071731.1:n.804-248_804-241delinsCCCCTTAG