Canonical Allele Identifier: CA1278368571

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108929326_108929327delinsCG , CM000664.2:g.108929326_108929327delinsCG	GRCh38
NC_000002.11:g.109545782_109545783delinsCG , CM000664.1:g.109545782_109545783delinsCG	GRCh37
NC_000002.10:g.108912214_108912215delinsCG	NCBI36
NG_008257.1:g.65046_65047delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.227_228delinsCG (EDAR) MANE Select	ENSP00000258443.2:p.Ala76=
ENST00000258443.6:c.227_228delinsCG (EDAR)	ENSP00000258443.2:p.Ala76=
ENST00000376651.1:c.227_228delinsCG (EDAR)	ENSP00000365839.1:p.Ala76=
ENST00000409271.5:c.227_228delinsCG (EDAR)	ENSP00000386371.1:p.Ala76=
NM_022336.3:c.227_228delinsCG (EDAR)	NP_071731.1:p.Ala76=
XM_006712204.1:c.227_228delinsCG (EDAR)	XP_006712267.1:p.Ala76=
XM_011510502.1:c.278_279delinsCG (EDAR)	XP_011508804.1:p.Ala93=
XM_011510503.1:c.278_279delinsCG (EDAR)	XP_011508805.1:p.Ala93=
XM_011510502.2:c.371_372delinsCG (EDAR)	XP_011508804.2:p.Ala124=
XM_011510503.2:c.371_372delinsCG (EDAR)	XP_011508805.2:p.Ala124=
XM_017004623.2:c.8370+156280_8370+156281delinsCG (RANBP2)	XP_016860112.1:n.8370+156280_8370+156281delinsCG
NM_022336.4:c.227_228delinsCG (EDAR) MANE Select	NP_071731.1:p.Ala76=