Canonical Allele Identifier: CA1278354235

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1696610035

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897004_108897006del , CM000664.2:g.108897004_108897006del	GRCh38
NC_000002.11:g.109513460_109513462del , CM000664.1:g.109513460_109513462del	GRCh37
NC_000002.10:g.108879892_108879894del	NCBI36
NG_008257.1:g.97368_97370del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.1249_1251del (EDAR) MANE Select	ENSP00000258443.2:p.Gln417del
ENST00000258443.6:c.1249_1251del (EDAR)	ENSP00000258443.2:p.Gln417del
ENST00000376651.1:c.1345_1347del (EDAR)	ENSP00000365839.1:p.Gln449del
ENST00000409271.5:c.1345_1347del (EDAR)	ENSP00000386371.1:p.Gln449del
NM_022336.3:c.1249_1251del (EDAR)	NP_071731.1:p.Gln417del
XM_006712204.1:c.1345_1347del (EDAR)	XP_006712267.1:p.Gln449del
XM_011510502.1:c.1396_1398del (EDAR)	XP_011508804.1:p.Gln466del
XM_011510503.1:c.1300_1302del (EDAR)	XP_011508805.1:p.Gln434del
XM_011510504.1:c.676_678del (EDAR)	XP_011508806.1:p.Gln226del
XM_011510502.2:c.1489_1491del (EDAR)	XP_011508804.2:p.Gln497del
XM_011510503.2:c.1393_1395del (EDAR)	XP_011508805.2:p.Gln465del
XM_017004623.2:c.8370+123958_8370+123960del (RANBP2)	XP_016860112.1:n.8370+123958_8370+123960d...
NM_022336.4:c.1249_1251del (EDAR) MANE Select	NP_071731.1:p.Gln417del