Canonical Allele Identifier: CA3430010
Gene: EGR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 780115
ClinVar RCV Id: RCV000961140
dbSNP Id: rs140268489

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138465960_138465962del , CM000667.2:g.138465960_138465962del GRCh38
NC_000005.9:g.137801649_137801651del , CM000667.1:g.137801649_137801651del GRCh37
NC_000005.8:g.137829548_137829550del NCBI36
NG_021374.1:g.5469_5471del

Transcript Alleles

HGVS Amino-acid Change
ENST00000239938.5:c.199_201del MANE Select ENSP00000239938.4:p.Ser67del
ENST00000239938.4:c.199_201del ENSP00000239938.4:p.Ser67del
NM_001964.2:c.199_201del NP_001955.1:p.Ser67del
NM_001964.3:c.199_201del MANE Select NP_001955.1:p.Ser67del