Canonical Allele Identifier: CA2573159014

Gene: EDA

Linked Data

• ClinVar Variation Id: 1463491
• ClinVar RCV Id: RCV001961074
• dbSNP Id: rs2147516497

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033489_70033494del , CM000685.2:g.70033489_70033494del	GRCh38
NC_000023.10:g.69253339_69253344del , CM000685.1:g.69253339_69253344del	GRCh37
NC_000023.9:g.69170064_69170069del	NCBI36
NG_009809.1:g.422429_422434del
NG_009809.2:g.422423_422428del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.885_890del MANE Select	ENSP00000363680.4:p.Leu296_Val297del
ENST00000374552.8:c.885_890del	ENSP00000363680.4:p.Leu296_Val297del
ENST00000374553.6:c.885_890del	ENSP00000363681.2:p.Leu296_Val297del
ENST00000524573.5:c.876_881del	ENSP00000432585.1:p.Leu293_Val294del
ENST00000616899.1:c.489_494del	ENSP00000481963.1:p.Leu164_Val165del
NM_001005609.1:c.885_890del	NP_001005609.1:p.Leu296_Val297del
NM_001005612.2:c.876_881del	NP_001005612.2:p.Leu293_Val294del
NM_001399.4:c.885_890del	NP_001390.1:p.Leu296_Val297del
XM_006724630.2:c.876_881del	XP_006724693.1:p.Leu293_Val294del
XM_011530885.1:c.885_890del	XP_011529187.1:p.Leu296_Val297del
XM_011530885.2:c.885_890del	XP_011529187.1:p.Leu296_Val297del
XM_017029336.1:c.882+3_882+8del
NM_001399.5:c.885_890del MANE Select	NP_001390.1:p.Leu296_Val297del
NM_001005609.2:c.885_890del	NP_001005609.1:p.Leu296_Val297del
NM_001005612.3:c.876_881del	NP_001005612.2:p.Leu293_Val294del