Canonical Allele Identifier: CA2825002957

Gene: EDA

Linked Data

• ClinVar Variation Id: 3087113
• ClinVar RCV Id: RCV004384474

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.69957132_69957151del , CM000685.2:g.69957132_69957151del	GRCh38
NC_000023.10:g.69176982_69177001del , CM000685.1:g.69176982_69177001del	GRCh37
NC_000023.9:g.69093707_69093726del	NCBI36
NG_009809.1:g.346072_346091del
NG_009809.2:g.346066_346085del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.502_502+19del
ENST00000374548.5:n.744_763del
ENST00000374552.8:c.502_502+19del
ENST00000374553.6:c.502_502+19del
ENST00000502251.5:n.795_814del
ENST00000503592.5:c.106_106+19del
ENST00000524573.5:c.502_502+19del
ENST00000533317.5:n.1117_1136del
ENST00000616899.1:c.106_106+19del
NM_001005609.1:c.502_502+19del
NM_001005612.2:c.502_502+19del
NM_001399.4:c.502_502+19del
XM_006724630.2:c.502_502+19del
XM_011530885.1:c.502_502+19del
XM_011530885.2:c.502_502+19del
XM_017029336.1:c.502_502+19del
NM_001399.5:c.502_502+19del
NM_001005609.2:c.502_502+19del
NM_001005612.3:c.502_502+19del