Canonical Allele Identifier: CA6301635

Gene: CD3E

Linked Data

• ClinVar Variation Id: 967299
• ClinVar RCV Id: RCV001242179
• dbSNP Id: rs758638097
• ExAC: 11:118183413 AATGATAAAAACATAGGCGGTGATGAGG / A
• gnomAD v2: 11-118183413-AATGATAAAAACATAGGCGGTGATGAGG-A
• gnomAD v4: 11-118312698-AATGATAAAAACATAGGCGGTGATGAGG-A
• MyVariant Identifiers: chr11:g.118183414_118183440del (hg19) ; chr11:g.118312699_118312725del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118312716_118312742del , CM000673.2:g.118312716_118312742del	GRCh38
NC_000011.9:g.118183431_118183457del , CM000673.1:g.118183431_118183457del	GRCh37
NC_000011.8:g.117688641_117688667del	NCBI36
NG_007383.1:g.13137_13163del , LRG_38:g.13137_13163del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361763.9:c.202_228del MANE Select	ENSP00000354566.4:p.Gly68_Gly76del
ENST00000361763.8:c.202_228del	ENSP00000354566.4:p.Gly68_Gly76del
ENST00000526146.5:n.748_774del
ENST00000528435.5:n.755_781del
ENST00000528600.1:c.184_210del	ENSP00000433975.1:p.Gly62_Gly70del
ENST00000529713.5:n.308_334del
ENST00000531913.1:n.573_599del
NM_000733.3:c.202_228del , LRG_38t1:c.202_228del	NP_000724.1:p.Gly68_Gly76del
NM_000733.4:c.202_228del MANE Select	NP_000724.1:p.Gly68_Gly76del