Canonical Allele Identifier: CA2695234195
Gene: EDA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.69957101dup , CM000685.2:g.69957101dup GRCh38
NC_000023.10:g.69176951dup , CM000685.1:g.69176951dup GRCh37
NC_000023.9:g.69093676dup NCBI36
NG_009809.1:g.346041dup
NG_009809.2:g.346035dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374552.9:c.471dup MANE Select ENSP00000363680.4:p.Lys158Ter
ENST00000374548.5:n.713dup
ENST00000374552.8:c.471dup ENSP00000363680.4:p.Lys158Ter
ENST00000374553.6:c.471dup ENSP00000363681.2:p.Lys158Ter
ENST00000502251.5:n.764dup
ENST00000503592.5:c.75dup ENSP00000423037.1:p.Lys26Ter
ENST00000524573.5:c.471dup ENSP00000432585.1:p.Lys158Ter
ENST00000533317.5:n.1086dup
ENST00000616899.1:c.75dup ENSP00000481963.1:p.Lys26Ter
NM_001005609.1:c.471dup NP_001005609.1:p.Lys158Ter
NM_001005612.2:c.471dup NP_001005612.2:p.Lys158Ter
NM_001399.4:c.471dup NP_001390.1:p.Lys158Ter
XM_006724630.2:c.471dup XP_006724693.1:p.Lys158Ter
XM_011530885.1:c.471dup XP_011529187.1:p.Lys158Ter
XM_011530885.2:c.471dup XP_011529187.1:p.Lys158Ter
XM_017029336.1:c.471dup XP_016884825.1:p.Lys158Ter
NM_001399.5:c.471dup MANE Select NP_001390.1:p.Lys158Ter
NM_001005609.2:c.471dup NP_001005609.1:p.Lys158Ter
NM_001005612.3:c.471dup NP_001005612.2:p.Lys158Ter