Canonical Allele Identifier: CA877772384

Gene: EDA

Linked Data

• dbSNP Id: rs1412276243
• gnomAD v4: X-70027900-CCCAGGACCT-C
• MyVariant Identifiers: chrX:g.69247751_69247759del (hg19) ; chrX:g.70027901_70027909del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027909_70027917del , CM000685.2:g.70027909_70027917del	GRCh38
NC_000023.10:g.69247759_69247767del , CM000685.1:g.69247759_69247767del	GRCh37
NC_000023.9:g.69164484_69164492del	NCBI36
NG_009809.1:g.416849_416857del
NG_009809.2:g.416843_416851del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.579_587del MANE Select	ENSP00000363680.4:p.Pro194_Pro196del
ENST00000374552.8:c.579_587del	ENSP00000363680.4:p.Pro194_Pro196del
ENST00000374553.6:c.579_587del	ENSP00000363681.2:p.Pro194_Pro196del
ENST00000503592.5:c.183_191del	ENSP00000423037.1:p.Pro62_Pro64del
ENST00000524573.5:c.579_587del	ENSP00000432585.1:p.Pro194_Pro196del
ENST00000616899.1:c.183_191del	ENSP00000481963.1:p.Pro62_Pro64del
NM_001005609.1:c.579_587del	NP_001005609.1:p.Pro194_Pro196del
NM_001005612.2:c.579_587del	NP_001005612.2:p.Pro194_Pro196del
NM_001399.4:c.579_587del	NP_001390.1:p.Pro194_Pro196del
XM_006724630.2:c.579_587del	XP_006724693.1:p.Pro194_Pro196del
XM_011530885.1:c.579_587del	XP_011529187.1:p.Pro194_Pro196del
XM_011530885.2:c.579_587del	XP_011529187.1:p.Pro194_Pro196del
XM_017029336.1:c.579_587del	XP_016884825.1:p.Pro194_Pro196del
NM_001399.5:c.579_587del MANE Select	NP_001390.1:p.Pro194_Pro196del
NM_001005609.2:c.579_587del	NP_001005609.1:p.Pro194_Pro196del
NM_001005612.3:c.579_587del	NP_001005612.2:p.Pro194_Pro196del