Canonical Allele Identifier: CA16617225
Gene: EDAR HGNC NCBI
RANBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 419158
ClinVar RCV Id: RCV000485277
dbSNP Id: rs1064793684
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108907934_108907940delinsCGGGCTCCTCATCA , CM000664.2:g.108907934_108907940delinsCGGGCTCCTCATCA GRCh38
NC_000002.11:g.109524390_109524396delinsCGGGCTCCTCATCA , CM000664.1:g.109524390_109524396delinsCGGGCTCCTCATCA GRCh37
NC_000002.10:g.108890822_108890828delinsCGGGCTCCTCATCA NCBI36
NG_008257.1:g.86433_86439delinsTGATGAGGAGCCCG

Transcript Alleles

HGVS Amino-acid change
ENST00000258443.7:c.883_889delinsTGATGAGGAGCCCG (EDAR) MANE Select ENSP00000258443.2:p.Gln295Ter
ENST00000258443.6:c.883_889delinsTGATGAGGAGCCCG (EDAR) ENSP00000258443.2:p.Gln295Ter
ENST00000376651.1:c.979_985delinsTGATGAGGAGCCCG (EDAR) ENSP00000365839.1:p.Gln327Ter
ENST00000409271.5:c.979_985delinsTGATGAGGAGCCCG (EDAR) ENSP00000386371.1:p.Gln327Ter
NM_022336.3:c.883_889delinsTGATGAGGAGCCCG (EDAR) NP_071731.1:p.Gln295Ter
XM_006712204.1:c.979_985delinsTGATGAGGAGCCCG (EDAR) XP_006712267.1:p.Gln327Ter
XM_011510502.1:c.1030_1036delinsTGATGAGGAGCCCG (EDAR) XP_011508804.1:p.Gln344Ter
XM_011510503.1:c.934_940delinsTGATGAGGAGCCCG (EDAR) XP_011508805.1:p.Gln312Ter
XM_011510504.1:c.310_316delinsTGATGAGGAGCCCG (EDAR) XP_011508806.1:p.Gln104Ter
XM_011510502.2:c.1123_1129delinsTGATGAGGAGCCCG (EDAR) XP_011508804.2:p.Gln375Ter
XM_011510503.2:c.1027_1033delinsTGATGAGGAGCCCG (EDAR) XP_011508805.2:p.Gln343Ter
XM_017004623.2:c.8370+134888_8370+134894delinsCGGGCTCCTCATCA (RANBP2) XP_016860112.1:n.8370+134888_8370+134894d...
NM_022336.4:c.883_889delinsTGATGAGGAGCCCG (EDAR) MANE Select NP_071731.1:p.Gln295Ter
Search 100 bp 5'
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