Canonical Allele Identifier: CA2577065494

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897077_108897078dup , CM000664.2:g.108897077_108897078dup	GRCh38
NC_000002.11:g.109513533_109513534dup , CM000664.1:g.109513533_109513534dup	GRCh37
NC_000002.10:g.108879965_108879966dup	NCBI36
NG_008257.1:g.97296_97297dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1177_1178dup (EDAR) MANE Select	ENSP00000258443.2:p.Asp393GlufsTer?
ENST00000258443.6:c.1177_1178dup (EDAR)	ENSP00000258443.2:p.Asp393GlufsTer?
ENST00000376651.1:c.1273_1274dup (EDAR)	ENSP00000365839.1:p.Asp425GlufsTer?
ENST00000409271.5:c.1273_1274dup (EDAR)	ENSP00000386371.1:p.Asp425GlufsTer?
NM_022336.3:c.1177_1178dup (EDAR)	NP_071731.1:p.Asp393GlufsTer?
XM_006712204.1:c.1273_1274dup (EDAR)	XP_006712267.1:p.Asp425GlufsTer?
XM_011510502.1:c.1324_1325dup (EDAR)	XP_011508804.1:p.Asp442GlufsTer?
XM_011510503.1:c.1228_1229dup (EDAR)	XP_011508805.1:p.Asp410GlufsTer?
XM_011510504.1:c.604_605dup (EDAR)	XP_011508806.1:p.Asp202GlufsTer?
XM_011510502.2:c.1417_1418dup (EDAR)	XP_011508804.2:p.Asp473GlufsTer?
XM_011510503.2:c.1321_1322dup (EDAR)	XP_011508805.2:p.Asp441GlufsTer?
XM_017004623.2:c.8370+124031_8370+124032dup (RANBP2)	XP_016860112.1:n.8370+124031_8370+124032dup
NM_022336.4:c.1177_1178dup (EDAR) MANE Select	NP_071731.1:p.Asp393GlufsTer?