Canonical Allele Identifier: CA2693978770

Gene: EDA

Linked Data

• gnomAD v4: X-70027942-GATTCCTGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027948_70027956del , CM000685.2:g.70027948_70027956del	GRCh38
NC_000023.10:g.69247798_69247806del , CM000685.1:g.69247798_69247806del	GRCh37
NC_000023.9:g.69164523_69164531del	NCBI36
NG_009809.1:g.416888_416896del
NG_009809.2:g.416882_416890del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.618_626del MANE Select	ENSP00000363680.4:p.Gly207_Pro209del
ENST00000374552.8:c.618_626del	ENSP00000363680.4:p.Gly207_Pro209del
ENST00000374553.6:c.618_626del	ENSP00000363681.2:p.Gly207_Pro209del
ENST00000503592.5:c.222_230del	ENSP00000423037.1:p.Gly75_Pro77del
ENST00000524573.5:c.618_626del	ENSP00000432585.1:p.Gly207_Pro209del
ENST00000616899.1:c.222_230del	ENSP00000481963.1:p.Gly75_Pro77del
NM_001005609.1:c.618_626del	NP_001005609.1:p.Gly207_Pro209del
NM_001005612.2:c.618_626del	NP_001005612.2:p.Gly207_Pro209del
NM_001399.4:c.618_626del	NP_001390.1:p.Gly207_Pro209del
XM_006724630.2:c.618_626del	XP_006724693.1:p.Gly207_Pro209del
XM_011530885.1:c.618_626del	XP_011529187.1:p.Gly207_Pro209del
XM_011530885.2:c.618_626del	XP_011529187.1:p.Gly207_Pro209del
XM_017029336.1:c.618_626del	XP_016884825.1:p.Gly207_Pro209del
NM_001399.5:c.618_626del MANE Select	NP_001390.1:p.Gly207_Pro209del
NM_001005609.2:c.618_626del	NP_001005609.1:p.Gly207_Pro209del
NM_001005612.3:c.618_626del	NP_001005612.2:p.Gly207_Pro209del