Canonical Allele Identifier: CA2821678338

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027929_70027930del , CM000685.2:g.70027929_70027930del	GRCh38
NC_000023.10:g.69247779_69247780del , CM000685.1:g.69247779_69247780del	GRCh37
NC_000023.9:g.69164504_69164505del	NCBI36
NG_009809.1:g.416869_416870del
NG_009809.2:g.416863_416864del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.599_600del MANE Select	ENSP00000363680.4:p.Pro200ArgfsTer?
ENST00000374552.8:c.599_600del	ENSP00000363680.4:p.Pro200ArgfsTer?
ENST00000374553.6:c.599_600del	ENSP00000363681.2:p.Pro200ArgfsTer?
ENST00000503592.5:c.203_204del	ENSP00000423037.1:p.Pro68ArgfsTer?
ENST00000524573.5:c.599_600del	ENSP00000432585.1:p.Pro200ArgfsTer?
ENST00000616899.1:c.203_204del	ENSP00000481963.1:p.Pro68ArgfsTer?
NM_001005609.1:c.599_600del	NP_001005609.1:p.Pro200ArgfsTer?
NM_001005612.2:c.599_600del	NP_001005612.2:p.Pro200ArgfsTer?
NM_001399.4:c.599_600del	NP_001390.1:p.Pro200ArgfsTer?
XM_006724630.2:c.599_600del	XP_006724693.1:p.Pro200ArgfsTer?
XM_011530885.1:c.599_600del	XP_011529187.1:p.Pro200ArgfsTer?
XM_011530885.2:c.599_600del	XP_011529187.1:p.Pro200ArgfsTer?
XM_017029336.1:c.599_600del	XP_016884825.1:p.Pro200ArgfsTer?
NM_001399.5:c.599_600del MANE Select	NP_001390.1:p.Pro200ArgfsTer?
NM_001005609.2:c.599_600del	NP_001005609.1:p.Pro200ArgfsTer?
NM_001005612.3:c.599_600del	NP_001005612.2:p.Pro200ArgfsTer?