Canonical Allele Identifier: CA913184723

Gene: EDA

Linked Data

• ClinVar Variation Id: 11047
• ClinVar RCV Id: RCV000011794
• dbSNP Id: rs1569406514

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033516_70033517dup , CM000685.2:g.70033516_70033517dup	GRCh38
NC_000023.10:g.69253366_69253367dup , CM000685.1:g.69253366_69253367dup	GRCh37
NC_000023.9:g.69170091_69170092dup	NCBI36
NG_009809.1:g.422456_422457dup
NG_009809.2:g.422450_422451dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.912_913dup MANE Select	ENSP00000363680.4:p.Ser305IlefsTer4
ENST00000374552.8:c.912_913dup	ENSP00000363680.4:p.Ser305IlefsTer4
ENST00000374553.6:c.912_913dup	ENSP00000363681.2:p.Ser305IlefsTer?
ENST00000524573.5:c.903_904dup	ENSP00000432585.1:p.Ser302IlefsTer?
ENST00000616899.1:c.516_517dup	ENSP00000481963.1:p.Ser173IlefsTer4
NM_001005609.1:c.912_913dup	NP_001005609.1:p.Ser305IlefsTer?
NM_001005612.2:c.903_904dup	NP_001005612.2:p.Ser302IlefsTer?
NM_001399.4:c.912_913dup	NP_001390.1:p.Ser305IlefsTer4
XM_006724630.2:c.903_904dup	XP_006724693.1:p.Ser302IlefsTer4
XM_011530885.1:c.912_913dup	XP_011529187.1:p.Ser305IlefsTer?
XM_011530885.2:c.912_913dup	XP_011529187.1:p.Ser305IlefsTer?
XM_017029336.1:c.882+30_882+31dup	XP_016884825.1:n.882+30_882+31dup
NM_001399.5:c.912_913dup MANE Select	NP_001390.1:p.Ser305IlefsTer4
NM_001005609.2:c.912_913dup	NP_001005609.1:p.Ser305IlefsTer?
NM_001005612.3:c.903_904dup	NP_001005612.2:p.Ser302IlefsTer?