Canonical Allele Identifier: CA2499226811

Gene: EDA

Linked Data

• ClinVar Variation Id: 1072490
• ClinVar RCV Id: RCV001385220
• dbSNP Id: rs2147509622

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027906_70027922del , CM000685.2:g.70027906_70027922del	GRCh38
NC_000023.10:g.69247756_69247772del , CM000685.1:g.69247756_69247772del	GRCh37
NC_000023.9:g.69164481_69164497del	NCBI36
NG_009809.1:g.416846_416862del
NG_009809.2:g.416840_416856del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.576_592del MANE Select	ENSP00000363680.4:p.Pro193ThrfsTer?
ENST00000374552.8:c.576_592del	ENSP00000363680.4:p.Pro193ThrfsTer?
ENST00000374553.6:c.576_592del	ENSP00000363681.2:p.Pro193ThrfsTer?
ENST00000503592.5:c.180_196del	ENSP00000423037.1:p.Pro61ThrfsTer?
ENST00000524573.5:c.576_592del	ENSP00000432585.1:p.Pro193ThrfsTer?
ENST00000616899.1:c.180_196del	ENSP00000481963.1:p.Pro61ThrfsTer?
NM_001005609.1:c.576_592del	NP_001005609.1:p.Pro193ThrfsTer?
NM_001005612.2:c.576_592del	NP_001005612.2:p.Pro193ThrfsTer?
NM_001399.4:c.576_592del	NP_001390.1:p.Pro193ThrfsTer?
XM_006724630.2:c.576_592del	XP_006724693.1:p.Pro193ThrfsTer?
XM_011530885.1:c.576_592del	XP_011529187.1:p.Pro193ThrfsTer?
XM_011530885.2:c.576_592del	XP_011529187.1:p.Pro193ThrfsTer?
XM_017029336.1:c.576_592del	XP_016884825.1:p.Pro193ThrfsTer?
NM_001399.5:c.576_592del MANE Select	NP_001390.1:p.Pro193ThrfsTer?
NM_001005609.2:c.576_592del	NP_001005609.1:p.Pro193ThrfsTer?
NM_001005612.3:c.576_592del	NP_001005612.2:p.Pro193ThrfsTer?