Canonical Allele Identifier: CA2435979663

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70028157_70028161delinsGCAGA , CM000685.2:g.70028157_70028161delinsGCAGA	GRCh38
NC_000023.10:g.69248007_69248011delinsGCAGA , CM000685.1:g.69248007_69248011delinsGCAGA	GRCh37
NC_000023.9:g.69164732_69164736delinsGCAGA	NCBI36
NG_009809.1:g.417097_417101delinsGCAGA
NG_009809.2:g.417091_417095delinsGCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.706+121_706+125delinsGCAGA MANE Select	ENSP00000363680.4:n.706+121_706+125delinsGCAGA
ENST00000374552.8:c.706+121_706+125delinsGCAGA	ENSP00000363680.4:n.706+121_706+125delinsGCAGA
ENST00000374553.6:c.706+121_706+125delinsGCAGA	ENSP00000363681.2:n.706+121_706+125delinsGCAGA
ENST00000503592.5:c.310+121_310+125delinsGCAGA	ENSP00000423037.1:n.310+121_310+125delinsGCAGA
ENST00000524573.5:c.706+121_706+125delinsGCAGA	ENSP00000432585.1:n.706+121_706+125delinsGCAGA
ENST00000616899.1:c.310+121_310+125delinsGCAGA	ENSP00000481963.1:n.310+121_310+125delinsGCAGA
NM_001005609.1:c.706+121_706+125delinsGCAGA	NP_001005609.1:n.706+121_706+125delinsGCAGA
NM_001005612.2:c.706+121_706+125delinsGCAGA	NP_001005612.2:n.706+121_706+125delinsGCAGA
NM_001399.4:c.706+121_706+125delinsGCAGA	NP_001390.1:n.706+121_706+125delinsGCAGA
XM_006724630.2:c.706+121_706+125delinsGCAGA	XP_006724693.1:n.706+121_706+125delinsGCAGA
XM_011530885.1:c.706+121_706+125delinsGCAGA	XP_011529187.1:n.706+121_706+125delinsGCAGA
XM_011530885.2:c.706+121_706+125delinsGCAGA	XP_011529187.1:n.706+121_706+125delinsGCAGA
XM_017029336.1:c.706+121_706+125delinsGCAGA	XP_016884825.1:n.706+121_706+125delinsGCAGA
NM_001399.5:c.706+121_706+125delinsGCAGA MANE Select	NP_001390.1:n.706+121_706+125delinsGCAGA
NM_001005609.2:c.706+121_706+125delinsGCAGA	NP_001005609.1:n.706+121_706+125delinsGCAGA
NM_001005612.3:c.706+121_706+125delinsGCAGA	NP_001005612.2:n.706+121_706+125delinsGCAGA