Canonical Allele Identifier: CA913184724

Gene: EDA

Linked Data

• ClinVar Variation Id: 11046
• ClinVar RCV Id: RCV000011793
• dbSNP Id: rs1569404873

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027903_70027904insT , CM000685.2:g.70027903_70027904insT	GRCh38
NC_000023.10:g.69247753_69247754insT , CM000685.1:g.69247753_69247754insT	GRCh37
NC_000023.9:g.69164478_69164479insT	NCBI36
NG_009809.1:g.416843_416844insT
NG_009809.2:g.416837_416838insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.573_574insT MANE Select	ENSP00000363680.4:p.Gly192TrpfsTer?
ENST00000374552.8:c.573_574insT	ENSP00000363680.4:p.Gly192TrpfsTer?
ENST00000374553.6:c.573_574insT	ENSP00000363681.2:p.Gly192TrpfsTer?
ENST00000503592.5:c.177_178insT	ENSP00000423037.1:p.Gly60TrpfsTer?
ENST00000524573.5:c.573_574insT	ENSP00000432585.1:p.Gly192TrpfsTer?
ENST00000616899.1:c.177_178insT	ENSP00000481963.1:p.Gly60TrpfsTer?
NM_001005609.1:c.573_574insT	NP_001005609.1:p.Gly192TrpfsTer?
NM_001005612.2:c.573_574insT	NP_001005612.2:p.Gly192TrpfsTer?
NM_001399.4:c.573_574insT	NP_001390.1:p.Gly192TrpfsTer?
XM_006724630.2:c.573_574insT	XP_006724693.1:p.Gly192TrpfsTer?
XM_011530885.1:c.573_574insT	XP_011529187.1:p.Gly192TrpfsTer?
XM_011530885.2:c.573_574insT	XP_011529187.1:p.Gly192TrpfsTer?
XM_017029336.1:c.573_574insT	XP_016884825.1:p.Gly192TrpfsTer?
NM_001399.5:c.573_574insT MANE Select	NP_001390.1:p.Gly192TrpfsTer?
NM_001005609.2:c.573_574insT	NP_001005609.1:p.Gly192TrpfsTer?
NM_001005612.3:c.573_574insT	NP_001005612.2:p.Gly192TrpfsTer?