Canonical Allele Identifier: CA249530
Gene: ERF HGNC NCBI

Linked Data

ClinVar Variation Id: 55924
ClinVar RCV Id: RCV000049337 RCV000794846 RCV001267114 RCV001420279 RCV002281897
dbSNP Id: rs587777007
gnomAD v4: 19-42249219-CCT-C
MyVariant Identifiers: chr19:g.42753372_42753373del (hg19) chr19:g.42249220_42249221del (hg38)
PubMed: PMID:23354439
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.42249220_42249221del , CM000681.2:g.42249220_42249221del GRCh38
NC_000019.9:g.42753372_42753373del , CM000681.1:g.42753372_42753373del GRCh37
NC_000019.8:g.47445212_47445213del NCBI36
NG_042802.1:g.10944_10945del

Transcript Alleles

HGVS Amino-acid change
ENST00000222329.9:c.891_892del MANE Select ENSP00000222329.3:p.Gly299ArgfsTer9
ENST00000222329.8:c.891_892del ENSP00000222329.3:p.Gly299ArgfsTer9
ENST00000440177.6:c.666_667del ENSP00000388173.2:p.Gly224ArgfsTer9
ENST00000594664.1:c.22+5757_22+5758del ENSP00000470087.1:n.22+5757_22+5758del
NM_001301035.1:c.666_667del NP_001287964.1:p.Gly224ArgfsTer9
NM_001308402.1:c.666_667del NP_001295331.1:p.Gly224ArgfsTer9
NM_001312656.1:c.666_667del NP_001299585.1:p.Gly224ArgfsTer9
NM_006494.3:c.891_892del NP_006485.2:p.Gly299ArgfsTer9
XM_011526612.1:c.666_667del XP_011524914.1:p.Gly224ArgfsTer9
XM_011526613.1:c.666_667del XP_011524915.1:p.Gly224ArgfsTer9
XM_017026468.1:c.666_667del XP_016881957.1:p.Gly224ArgfsTer9
XM_017026469.1:c.666_667del XP_016881958.1:p.Gly224ArgfsTer9
NM_006494.4:c.891_892del MANE Select NP_006485.2:p.Gly299ArgfsTer9
NM_001308402.2:c.666_667del NP_001295331.1:p.Gly224ArgfsTer9
NM_001312656.2:c.666_667del NP_001299585.1:p.Gly224ArgfsTer9
NM_001301035.2:c.666_667del NP_001287964.1:p.Gly224ArgfsTer9
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