Canonical Allele Identifier: CA2586969740

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897066_108897068dup , CM000664.2:g.108897066_108897068dup	GRCh38
NC_000002.11:g.109513522_109513524dup , CM000664.1:g.109513522_109513524dup	GRCh37
NC_000002.10:g.108879954_108879956dup	NCBI36
NG_008257.1:g.97306_97308dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.1187_1189dup (EDAR) MANE Select	ENSP00000258443.2:p.Gln396_Leu397insGln
ENST00000258443.6:c.1187_1189dup (EDAR)	ENSP00000258443.2:p.Gln396_Leu397insGln
ENST00000376651.1:c.1283_1285dup (EDAR)	ENSP00000365839.1:p.Gln428_Leu429insGln
ENST00000409271.5:c.1283_1285dup (EDAR)	ENSP00000386371.1:p.Gln428_Leu429insGln
NM_022336.3:c.1187_1189dup (EDAR)	NP_071731.1:p.Gln396_Leu397insGln
XM_006712204.1:c.1283_1285dup (EDAR)	XP_006712267.1:p.Gln428_Leu429insGln
XM_011510502.1:c.1334_1336dup (EDAR)	XP_011508804.1:p.Gln445_Leu446insGln
XM_011510503.1:c.1238_1240dup (EDAR)	XP_011508805.1:p.Gln413_Leu414insGln
XM_011510504.1:c.614_616dup (EDAR)	XP_011508806.1:p.Gln205_Leu206insGln
XM_011510502.2:c.1427_1429dup (EDAR)	XP_011508804.2:p.Gln476_Leu477insGln
XM_011510503.2:c.1331_1333dup (EDAR)	XP_011508805.2:p.Gln444_Leu445insGln
XM_017004623.2:c.8370+124020_8370+124022dup (RANBP2)	XP_016860112.1:n.8370+124020_8370+124022d...
NM_022336.4:c.1187_1189dup (EDAR) MANE Select	NP_071731.1:p.Gln396_Leu397insGln