Canonical Allele Identifier: CA53472940

Linked Data

dbSNP Id: rs796867349

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108907578_108907579delinsTT , CM000664.2:g.108907578_108907579delinsTT GRCh38
NC_000002.11:g.109524034_109524035delinsTT , CM000664.1:g.109524034_109524035delinsTT GRCh37
NC_000002.10:g.108890466_108890467delinsTT NCBI36
NG_008257.1:g.86794_86795delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.963+281_963+282delinsAA (EDAR) MANE Select ENSP00000258443.2:n.963+281_963+282delinsAA
ENST00000258443.6:c.963+281_963+282delinsAA (EDAR) ENSP00000258443.2:n.963+281_963+282delinsAA
ENST00000376651.1:c.1059+281_1059+282delinsAA (EDAR) ENSP00000365839.1:n.1059+281_1059+282delinsAA
ENST00000409271.5:c.1059+281_1059+282delinsAA (EDAR) ENSP00000386371.1:n.1059+281_1059+282delinsAA
NM_022336.3:c.963+281_963+282delinsAA (EDAR) NP_071731.1:n.963+281_963+282delinsAA
XM_006712204.1:c.1059+281_1059+282delinsAA (EDAR) XP_006712267.1:n.1059+281_1059+282delinsAA
XM_011510502.1:c.1110+281_1110+282delinsAA (EDAR) XP_011508804.1:n.1110+281_1110+282delinsAA
XM_011510503.1:c.1014+281_1014+282delinsAA (EDAR) XP_011508805.1:n.1014+281_1014+282delinsAA
XM_011510504.1:c.390+281_390+282delinsAA (EDAR) XP_011508806.1:n.390+281_390+282delinsAA
XM_011510502.2:c.1203+281_1203+282delinsAA (EDAR) XP_011508804.2:n.1203+281_1203+282delinsAA
XM_011510503.2:c.1107+281_1107+282delinsAA (EDAR) XP_011508805.2:n.1107+281_1107+282delinsAA
XM_017004623.2:c.8370+134532_8370+134533delinsTT (RANBP2) XP_016860112.1:n.8370+134532_8370+134533delinsTT
NM_022336.4:c.963+281_963+282delinsAA (EDAR) MANE Select NP_071731.1:n.963+281_963+282delinsAA