Canonical Allele Identifier: CA1134049083

Gene: EDA

Linked Data

• dbSNP Id: rs2020136158
• gnomAD v3: X-70027885-T-TGGCCCTCCA
• gnomAD v4: X-70027885-T-TGGCCCTCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027888_70027896dup , CM000685.2:g.70027888_70027896dup	GRCh38
NC_000023.10:g.69247738_69247746dup , CM000685.1:g.69247738_69247746dup	GRCh37
NC_000023.9:g.69164463_69164471dup	NCBI36
NG_009809.1:g.416828_416836dup
NG_009809.2:g.416822_416830dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.558_566dup MANE Select	ENSP00000363680.4:p.Gly189_Pro190insProProGly
ENST00000374552.8:c.558_566dup	ENSP00000363680.4:p.Gly189_Pro190insProProGly
ENST00000374553.6:c.558_566dup	ENSP00000363681.2:p.Gly189_Pro190insProProGly
ENST00000503592.5:c.162_170dup	ENSP00000423037.1:p.Gly57_Pro58insProProGly
ENST00000524573.5:c.558_566dup	ENSP00000432585.1:p.Gly189_Pro190insProProGly
ENST00000616899.1:c.162_170dup	ENSP00000481963.1:p.Gly57_Pro58insProProGly
NM_001005609.1:c.558_566dup	NP_001005609.1:p.Gly189_Pro190insProProGly
NM_001005612.2:c.558_566dup	NP_001005612.2:p.Gly189_Pro190insProProGly
NM_001399.4:c.558_566dup	NP_001390.1:p.Gly189_Pro190insProProGly
XM_006724630.2:c.558_566dup	XP_006724693.1:p.Gly189_Pro190insProProGly
XM_011530885.1:c.558_566dup	XP_011529187.1:p.Gly189_Pro190insProProGly
XM_011530885.2:c.558_566dup	XP_011529187.1:p.Gly189_Pro190insProProGly
XM_017029336.1:c.558_566dup	XP_016884825.1:p.Gly189_Pro190insProProGly
NM_001399.5:c.558_566dup MANE Select	NP_001390.1:p.Gly189_Pro190insProProGly
NM_001005609.2:c.558_566dup	NP_001005609.1:p.Gly189_Pro190insProProGly
NM_001005612.3:c.558_566dup	NP_001005612.2:p.Gly189_Pro190insProProGly