Canonical Allele Identifier: CA2435979601

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027997_70028033delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT , CM000685.2:g.70027997_70028033delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT	GRCh38
NC_000023.10:g.69247847_69247883delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT , CM000685.1:g.69247847_69247883delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT	GRCh37
NC_000023.9:g.69164572_69164608delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT	NCBI36
NG_009809.1:g.416937_416973delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT
NG_009809.2:g.416931_416967delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.667_703delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT MANE Select	ENSP00000363680.4:p.Pro223=
ENST00000374552.8:c.667_703delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT	ENSP00000363680.4:p.Pro223=
ENST00000374553.6:c.667_703delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT	ENSP00000363681.2:p.Pro223=
ENST00000503592.5:c.271_307delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT	ENSP00000423037.1:p.Pro91=
ENST00000524573.5:c.667_703delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT	ENSP00000432585.1:p.Pro223=
ENST00000616899.1:c.271_307delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT	ENSP00000481963.1:p.Pro91=
NM_001005609.1:c.667_703delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT	NP_001005609.1:p.Pro223=
NM_001005612.2:c.667_703delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT	NP_001005612.2:p.Pro223=
NM_001399.4:c.667_703delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT	NP_001390.1:p.Pro223=
XM_006724630.2:c.667_703delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT	XP_006724693.1:p.Pro223=
XM_011530885.1:c.667_703delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT	XP_011529187.1:p.Pro223=
XM_011530885.2:c.667_703delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT	XP_011529187.1:p.Pro223=
XM_017029336.1:c.667_703delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT	XP_016884825.1:p.Pro223=
NM_001399.5:c.667_703delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT MANE Select	NP_001390.1:p.Pro223=
NM_001005609.2:c.667_703delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT	NP_001005609.1:p.Pro223=
NM_001005612.3:c.667_703delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT	NP_001005612.2:p.Pro223=