Canonical Allele Identifier: CA2499226813

Gene: EDA

Linked Data

• ClinVar Variation Id: 1071684
• ClinVar RCV Id: RCV001384206
• dbSNP Id: rs2147509775

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027944_70028029del , CM000685.2:g.70027944_70028029del	GRCh38
NC_000023.10:g.69247794_69247879del , CM000685.1:g.69247794_69247879del	GRCh37
NC_000023.9:g.69164519_69164604del	NCBI36
NG_009809.1:g.416884_416969del
NG_009809.2:g.416878_416963del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.614_699del MANE Select	ENSP00000363680.4:p.Ile205ThrfsTer6
ENST00000374552.8:c.614_699del	ENSP00000363680.4:p.Ile205ThrfsTer6
ENST00000374553.6:c.614_699del	ENSP00000363681.2:p.Ile205ThrfsTer6
ENST00000503592.5:c.218_303del	ENSP00000423037.1:p.Ile73ThrfsTer6
ENST00000524573.5:c.614_699del	ENSP00000432585.1:p.Ile205ThrfsTer6
ENST00000616899.1:c.218_303del	ENSP00000481963.1:p.Ile73ThrfsTer6
NM_001005609.1:c.614_699del	NP_001005609.1:p.Ile205ThrfsTer6
NM_001005612.2:c.614_699del	NP_001005612.2:p.Ile205ThrfsTer6
NM_001399.4:c.614_699del	NP_001390.1:p.Ile205ThrfsTer6
XM_006724630.2:c.614_699del	XP_006724693.1:p.Ile205ThrfsTer6
XM_011530885.1:c.614_699del	XP_011529187.1:p.Ile205ThrfsTer6
XM_011530885.2:c.614_699del	XP_011529187.1:p.Ile205ThrfsTer6
XM_017029336.1:c.614_699del	XP_016884825.1:p.Ile205ThrfsTer6
NM_001399.5:c.614_699del MANE Select	NP_001390.1:p.Ile205ThrfsTer6
NM_001005609.2:c.614_699del	NP_001005609.1:p.Ile205ThrfsTer6
NM_001005612.3:c.614_699del	NP_001005612.2:p.Ile205ThrfsTer6