Canonical Allele Identifier: CA2435979515

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027808_70027809delinsGC , CM000685.2:g.70027808_70027809delinsGC	GRCh38
NC_000023.10:g.69247658_69247659delinsGC , CM000685.1:g.69247658_69247659delinsGC	GRCh37
NC_000023.9:g.69164383_69164384delinsGC	NCBI36
NG_009809.1:g.416748_416749delinsGC
NG_009809.2:g.416742_416743delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.527-49_527-48delinsGC MANE Select	ENSP00000363680.4:n.527-49_527-48delinsGC
ENST00000374552.8:c.527-49_527-48delinsGC	ENSP00000363680.4:n.527-49_527-48delinsGC
ENST00000374553.6:c.527-49_527-48delinsGC	ENSP00000363681.2:n.527-49_527-48delinsGC
ENST00000503592.5:c.131-49_131-48delinsGC	ENSP00000423037.1:n.131-49_131-48delinsGC
ENST00000524573.5:c.527-49_527-48delinsGC	ENSP00000432585.1:n.527-49_527-48delinsGC
ENST00000616899.1:c.131-49_131-48delinsGC	ENSP00000481963.1:n.131-49_131-48delinsGC
NM_001005609.1:c.527-49_527-48delinsGC	NP_001005609.1:n.527-49_527-48delinsGC
NM_001005612.2:c.527-49_527-48delinsGC	NP_001005612.2:n.527-49_527-48delinsGC
NM_001399.4:c.527-49_527-48delinsGC	NP_001390.1:n.527-49_527-48delinsGC
XM_006724630.2:c.527-49_527-48delinsGC	XP_006724693.1:n.527-49_527-48delinsGC
XM_011530885.1:c.527-49_527-48delinsGC	XP_011529187.1:n.527-49_527-48delinsGC
XM_011530885.2:c.527-49_527-48delinsGC	XP_011529187.1:n.527-49_527-48delinsGC
XM_017029336.1:c.527-49_527-48delinsGC	XP_016884825.1:n.527-49_527-48delinsGC
NM_001399.5:c.527-49_527-48delinsGC MANE Select	NP_001390.1:n.527-49_527-48delinsGC
NM_001005609.2:c.527-49_527-48delinsGC	NP_001005609.1:n.527-49_527-48delinsGC
NM_001005612.3:c.527-49_527-48delinsGC	NP_001005612.2:n.527-49_527-48delinsGC