Canonical Allele Identifier: CA2740092187

Gene: EDA

Linked Data

• ClinVar Variation Id: 2983022
• ClinVar RCV Id: RCV003845653

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.69957142_69957146del , CM000685.2:g.69957142_69957146del	GRCh38
NC_000023.10:g.69176992_69176996del , CM000685.1:g.69176992_69176996del	GRCh37
NC_000023.9:g.69093717_69093721del	NCBI36
NG_009809.1:g.346082_346086del
NG_009809.2:g.346076_346080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.502+10_502+14del MANE Select	ENSP00000363680.4:n.502+10_502+14del
ENST00000374548.5:n.754_758del
ENST00000374552.8:c.502+10_502+14del	ENSP00000363680.4:n.502+10_502+14del
ENST00000374553.6:c.502+10_502+14del	ENSP00000363681.2:n.502+10_502+14del
ENST00000502251.5:n.805_809del
ENST00000503592.5:c.106+10_106+14del	ENSP00000423037.1:n.106+10_106+14del
ENST00000524573.5:c.502+10_502+14del	ENSP00000432585.1:n.502+10_502+14del
ENST00000533317.5:n.1127_1131del
ENST00000616899.1:c.106+10_106+14del	ENSP00000481963.1:n.106+10_106+14del
NM_001005609.1:c.502+10_502+14del	NP_001005609.1:n.502+10_502+14del
NM_001005612.2:c.502+10_502+14del	NP_001005612.2:n.502+10_502+14del
NM_001399.4:c.502+10_502+14del	NP_001390.1:n.502+10_502+14del
XM_006724630.2:c.502+10_502+14del	XP_006724693.1:n.502+10_502+14del
XM_011530885.1:c.502+10_502+14del	XP_011529187.1:n.502+10_502+14del
XM_011530885.2:c.502+10_502+14del	XP_011529187.1:n.502+10_502+14del
XM_017029336.1:c.502+10_502+14del	XP_016884825.1:n.502+10_502+14del
NM_001399.5:c.502+10_502+14del MANE Select	NP_001390.1:n.502+10_502+14del
NM_001005609.2:c.502+10_502+14del	NP_001005609.1:n.502+10_502+14del
NM_001005612.3:c.502+10_502+14del	NP_001005612.2:n.502+10_502+14del