Canonical Allele Identifier: CA2832528871

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897161_108897177dup , CM000664.2:g.108897161_108897177dup	GRCh38
NC_000002.11:g.109513617_109513633dup , CM000664.1:g.109513617_109513633dup	GRCh37
NC_000002.10:g.108880049_108880065dup	NCBI36
NG_008257.1:g.97196_97212dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1077_1093dup (EDAR) MANE Select	ENSP00000258443.2:p.Asn365SerfsTer13
ENST00000258443.6:c.1077_1093dup (EDAR)	ENSP00000258443.2:p.Asn365SerfsTer13
ENST00000376651.1:c.1173_1189dup (EDAR)	ENSP00000365839.1:p.Asn397SerfsTer13
ENST00000409271.5:c.1173_1189dup (EDAR)	ENSP00000386371.1:p.Asn397SerfsTer13
NM_022336.3:c.1077_1093dup (EDAR)	NP_071731.1:p.Asn365SerfsTer13
XM_006712204.1:c.1173_1189dup (EDAR)	XP_006712267.1:p.Asn397SerfsTer13
XM_011510502.1:c.1224_1240dup (EDAR)	XP_011508804.1:p.Asn414SerfsTer13
XM_011510503.1:c.1128_1144dup (EDAR)	XP_011508805.1:p.Asn382SerfsTer13
XM_011510504.1:c.504_520dup (EDAR)	XP_011508806.1:p.Asn174SerfsTer13
XM_011510502.2:c.1317_1333dup (EDAR)	XP_011508804.2:p.Asn445SerfsTer13
XM_011510503.2:c.1221_1237dup (EDAR)	XP_011508805.2:p.Asn413SerfsTer13
XM_017004623.2:c.8370+124115_8370+124131dup (RANBP2)	XP_016860112.1:n.8370+124115_8370+124131dup
NM_022336.4:c.1077_1093dup (EDAR) MANE Select	NP_071731.1:p.Asn365SerfsTer13