Canonical Allele Identifier: CA2751632611

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108907510_108907511insAGT , CM000664.2:g.108907510_108907511insAGT GRCh38
NC_000002.11:g.109523966_109523967insAGT , CM000664.1:g.109523966_109523967insAGT GRCh37
NC_000002.10:g.108890398_108890399insAGT NCBI36
NG_008257.1:g.86864_86865insTAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.963+351_963+352insTAC (EDAR) MANE Select ENSP00000258443.2:n.963+351_963+352insTAC
ENST00000258443.6:c.963+351_963+352insTAC (EDAR) ENSP00000258443.2:n.963+351_963+352insTAC
ENST00000376651.1:c.1059+351_1059+352insTAC (EDAR) ENSP00000365839.1:n.1059+351_1059+352insTAC
ENST00000409271.5:c.1059+351_1059+352insTAC (EDAR) ENSP00000386371.1:n.1059+351_1059+352insTAC
NM_022336.3:c.963+351_963+352insTAC (EDAR) NP_071731.1:n.963+351_963+352insTAC
XM_006712204.1:c.1059+351_1059+352insTAC (EDAR) XP_006712267.1:n.1059+351_1059+352insTAC
XM_011510502.1:c.1110+351_1110+352insTAC (EDAR) XP_011508804.1:n.1110+351_1110+352insTAC
XM_011510503.1:c.1014+351_1014+352insTAC (EDAR) XP_011508805.1:n.1014+351_1014+352insTAC
XM_011510504.1:c.390+351_390+352insTAC (EDAR) XP_011508806.1:n.390+351_390+352insTAC
XM_011510502.2:c.1203+351_1203+352insTAC (EDAR) XP_011508804.2:n.1203+351_1203+352insTAC
XM_011510503.2:c.1107+351_1107+352insTAC (EDAR) XP_011508805.2:n.1107+351_1107+352insTAC
XM_017004623.2:c.8370+134464_8370+134465insAGT (RANBP2) XP_016860112.1:n.8370+134464_8370+134465insAGT
NM_022336.4:c.963+351_963+352insTAC (EDAR) MANE Select NP_071731.1:n.963+351_963+352insTAC