Canonical Allele Identifier: CA10438961

Gene: EDA

Linked Data

• dbSNP Id: rs11426919
• ExAC: X:69247672 C / CAA
• gnomAD v2: X-69247672-C-CAA
• gnomAD v3: X-70027822-C-CAA
• gnomAD v4: X-70027822-C-CAA
• MyVariant Identifiers: chrX:g.69247674_69247675insAA (hg19) ; chrX:g.69247673_69247674insAA (hg19) ; chrX:g.69247672_69247673insAA (hg19) ; chrX:g.70027822_70027823insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027831_70027832dup , CM000685.2:g.70027831_70027832dup	GRCh38
NC_000023.10:g.69247681_69247682dup , CM000685.1:g.69247681_69247682dup	GRCh37
NC_000023.9:g.69164406_69164407dup	NCBI36
NG_009809.1:g.416771_416772dup
NG_009809.2:g.416765_416766dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.527-26_527-25dup MANE Select	ENSP00000363680.4:n.527-26_527-25dup
ENST00000374552.8:c.527-26_527-25dup	ENSP00000363680.4:n.527-26_527-25dup
ENST00000374553.6:c.527-26_527-25dup	ENSP00000363681.2:n.527-26_527-25dup
ENST00000503592.5:c.131-26_131-25dup	ENSP00000423037.1:n.131-26_131-25dup
ENST00000524573.5:c.527-26_527-25dup	ENSP00000432585.1:n.527-26_527-25dup
ENST00000616899.1:c.131-26_131-25dup	ENSP00000481963.1:n.131-26_131-25dup
NM_001005609.1:c.527-26_527-25dup	NP_001005609.1:n.527-26_527-25dup
NM_001005612.2:c.527-26_527-25dup	NP_001005612.2:n.527-26_527-25dup
NM_001399.4:c.527-26_527-25dup	NP_001390.1:n.527-26_527-25dup
XM_006724630.2:c.527-26_527-25dup	XP_006724693.1:n.527-26_527-25dup
XM_011530885.1:c.527-26_527-25dup	XP_011529187.1:n.527-26_527-25dup
XM_011530885.2:c.527-26_527-25dup	XP_011529187.1:n.527-26_527-25dup
XM_017029336.1:c.527-26_527-25dup	XP_016884825.1:n.527-26_527-25dup
NM_001399.5:c.527-26_527-25dup MANE Select	NP_001390.1:n.527-26_527-25dup
NM_001005609.2:c.527-26_527-25dup	NP_001005609.1:n.527-26_527-25dup
NM_001005612.3:c.527-26_527-25dup	NP_001005612.2:n.527-26_527-25dup