Canonical Allele Identifier: CA642457221

Gene: EDA

Linked Data

• dbSNP Id: rs1448473101
• gnomAD v2: X-69253198-CCT-C
• gnomAD v4: X-70033348-CCT-C
• MyVariant Identifiers: chrX:g.69253199_69253200del (hg19) ; chrX:g.70033349_70033350del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033350_70033351del , CM000685.2:g.70033350_70033351del	GRCh38
NC_000023.10:g.69253200_69253201del , CM000685.1:g.69253200_69253201del	GRCh37
NC_000023.9:g.69169925_69169926del	NCBI36
NG_009809.1:g.422290_422291del
NG_009809.2:g.422284_422285del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.794-48_794-47del MANE Select	ENSP00000363680.4:n.794-48_794-47del
ENST00000374552.8:c.794-48_794-47del	ENSP00000363680.4:n.794-48_794-47del
ENST00000374553.6:c.794-48_794-47del	ENSP00000363681.2:n.794-48_794-47del
ENST00000503592.5:c.398-48_398-47del	ENSP00000423037.1:n.398-48_398-47del
ENST00000524573.5:c.794-57_794-56del	ENSP00000432585.1:n.794-57_794-56del
ENST00000616899.1:c.398-48_398-47del	ENSP00000481963.1:n.398-48_398-47del
NM_001005609.1:c.794-48_794-47del	NP_001005609.1:n.794-48_794-47del
NM_001005612.2:c.794-57_794-56del	NP_001005612.2:n.794-57_794-56del
NM_001399.4:c.794-48_794-47del	NP_001390.1:n.794-48_794-47del
XM_006724630.2:c.794-57_794-56del	XP_006724693.1:n.794-57_794-56del
XM_011530885.1:c.794-48_794-47del	XP_011529187.1:n.794-48_794-47del
XM_011530885.2:c.794-48_794-47del	XP_011529187.1:n.794-48_794-47del
XM_017029336.1:c.794-48_794-47del	XP_016884825.1:n.794-48_794-47del
NM_001399.5:c.794-48_794-47del MANE Select	NP_001390.1:n.794-48_794-47del
NM_001005609.2:c.794-48_794-47del	NP_001005609.1:n.794-48_794-47del
NM_001005612.3:c.794-57_794-56del	NP_001005612.2:n.794-57_794-56del