Canonical Allele Identifier: CA2660593629

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108897114-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897118_108897119del , CM000664.2:g.108897118_108897119del	GRCh38
NC_000002.11:g.109513574_109513575del , CM000664.1:g.109513574_109513575del	GRCh37
NC_000002.10:g.108880006_108880007del	NCBI36
NG_008257.1:g.97257_97258del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1138_1139del (EDAR) MANE Select	ENSP00000258443.2:p.Ser380LeufsTer7
ENST00000258443.6:c.1138_1139del (EDAR)	ENSP00000258443.2:p.Ser380LeufsTer7
ENST00000376651.1:c.1234_1235del (EDAR)	ENSP00000365839.1:p.Ser412LeufsTer7
ENST00000409271.5:c.1234_1235del (EDAR)	ENSP00000386371.1:p.Ser412LeufsTer7
NM_022336.3:c.1138_1139del (EDAR)	NP_071731.1:p.Ser380LeufsTer7
XM_006712204.1:c.1234_1235del (EDAR)	XP_006712267.1:p.Ser412LeufsTer7
XM_011510502.1:c.1285_1286del (EDAR)	XP_011508804.1:p.Ser429LeufsTer7
XM_011510503.1:c.1189_1190del (EDAR)	XP_011508805.1:p.Ser397LeufsTer7
XM_011510504.1:c.565_566del (EDAR)	XP_011508806.1:p.Ser189LeufsTer7
XM_011510502.2:c.1378_1379del (EDAR)	XP_011508804.2:p.Ser460LeufsTer7
XM_011510503.2:c.1282_1283del (EDAR)	XP_011508805.2:p.Ser428LeufsTer7
XM_017004623.2:c.8370+124072_8370+124073del (RANBP2)	XP_016860112.1:n.8370+124072_8370+124073del
NM_022336.4:c.1138_1139del (EDAR) MANE Select	NP_071731.1:p.Ser380LeufsTer7