Canonical Allele Identifier: CA1134049047

Gene: EDA

Linked Data

• dbSNP Id: rs2020132090
• gnomAD v3: X-70027799-G-GT
• gnomAD v4: X-70027799-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027799_70027800insT , CM000685.2:g.70027799_70027800insT	GRCh38
NC_000023.10:g.69247649_69247650insT , CM000685.1:g.69247649_69247650insT	GRCh37
NC_000023.9:g.69164374_69164375insT	NCBI36
NG_009809.1:g.416739_416740insT
NG_009809.2:g.416733_416734insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.527-58_527-57insT MANE Select	ENSP00000363680.4:n.527-58_527-57insT
ENST00000374552.8:c.527-58_527-57insT	ENSP00000363680.4:n.527-58_527-57insT
ENST00000374553.6:c.527-58_527-57insT	ENSP00000363681.2:n.527-58_527-57insT
ENST00000503592.5:c.131-58_131-57insT	ENSP00000423037.1:n.131-58_131-57insT
ENST00000524573.5:c.527-58_527-57insT	ENSP00000432585.1:n.527-58_527-57insT
ENST00000616899.1:c.131-58_131-57insT	ENSP00000481963.1:n.131-58_131-57insT
NM_001005609.1:c.527-58_527-57insT	NP_001005609.1:n.527-58_527-57insT
NM_001005612.2:c.527-58_527-57insT	NP_001005612.2:n.527-58_527-57insT
NM_001399.4:c.527-58_527-57insT	NP_001390.1:n.527-58_527-57insT
XM_006724630.2:c.527-58_527-57insT	XP_006724693.1:n.527-58_527-57insT
XM_011530885.1:c.527-58_527-57insT	XP_011529187.1:n.527-58_527-57insT
XM_011530885.2:c.527-58_527-57insT	XP_011529187.1:n.527-58_527-57insT
XM_017029336.1:c.527-58_527-57insT	XP_016884825.1:n.527-58_527-57insT
NM_001399.5:c.527-58_527-57insT MANE Select	NP_001390.1:n.527-58_527-57insT
NM_001005609.2:c.527-58_527-57insT	NP_001005609.1:n.527-58_527-57insT
NM_001005612.3:c.527-58_527-57insT	NP_001005612.2:n.527-58_527-57insT