Canonical Allele Identifier: CA2695234199

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027863_70027882delinsCTGAA , CM000685.2:g.70027863_70027882delinsCTGAA	GRCh38
NC_000023.10:g.69247713_69247732delinsCTGAA , CM000685.1:g.69247713_69247732delinsCTGAA	GRCh37
NC_000023.9:g.69164438_69164457delinsCTGAA	NCBI36
NG_009809.1:g.416803_416822delinsCTGAA
NG_009809.2:g.416797_416816delinsCTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.533_552delinsCTGAA MANE Select	ENSP00000363680.4:p.Lys178_Pro184delinsThrGlu
ENST00000374552.8:c.533_552delinsCTGAA	ENSP00000363680.4:p.Lys178_Pro184delinsThrGlu
ENST00000374553.6:c.533_552delinsCTGAA	ENSP00000363681.2:p.Lys178_Pro184delinsThrGlu
ENST00000503592.5:c.137_156delinsCTGAA	ENSP00000423037.1:p.Lys46_Pro52delinsThrGlu
ENST00000524573.5:c.533_552delinsCTGAA	ENSP00000432585.1:p.Lys178_Pro184delinsThrGlu
ENST00000616899.1:c.137_156delinsCTGAA	ENSP00000481963.1:p.Lys46_Pro52delinsThrGlu
NM_001005609.1:c.533_552delinsCTGAA	NP_001005609.1:p.Lys178_Pro184delinsThrGlu
NM_001005612.2:c.533_552delinsCTGAA	NP_001005612.2:p.Lys178_Pro184delinsThrGlu
NM_001399.4:c.533_552delinsCTGAA	NP_001390.1:p.Lys178_Pro184delinsThrGlu
XM_006724630.2:c.533_552delinsCTGAA	XP_006724693.1:p.Lys178_Pro184delinsThrGlu
XM_011530885.1:c.533_552delinsCTGAA	XP_011529187.1:p.Lys178_Pro184delinsThrGlu
XM_011530885.2:c.533_552delinsCTGAA	XP_011529187.1:p.Lys178_Pro184delinsThrGlu
XM_017029336.1:c.533_552delinsCTGAA	XP_016884825.1:p.Lys178_Pro184delinsThrGlu
NM_001399.5:c.533_552delinsCTGAA MANE Select	NP_001390.1:p.Lys178_Pro184delinsThrGlu
NM_001005609.2:c.533_552delinsCTGAA	NP_001005609.1:p.Lys178_Pro184delinsThrGlu
NM_001005612.3:c.533_552delinsCTGAA	NP_001005612.2:p.Lys178_Pro184delinsThrGlu