Canonical Allele Identifier: CA2573156422
Community Standard Title: NM_006494.4(ERF):c.911_913del (p.Ser304del)
Gene: ERF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.42249201_42249203del , CM000681.2:g.42249201_42249203del GRCh38
NC_000019.9:g.42753353_42753355del , CM000681.1:g.42753353_42753355del GRCh37
NC_000019.8:g.47445193_47445195del NCBI36
NG_042802.1:g.10964_10966del

Transcript Alleles

HGVS Amino-acid Change
NM_006494.4:c.911_913del MANE Select NP_006485.2:p.Ser304del
ENST00000222329.9:c.911_913del MANE Select ENSP00000222329.3:p.Ser304del
NM_001301035.1:c.686_688del NP_001287964.1:p.Ser229del
NM_001301035.2:c.686_688del NP_001287964.1:p.Ser229del
NM_001308402.1:c.686_688del NP_001295331.1:p.Ser229del
NM_001308402.2:c.686_688del NP_001295331.1:p.Ser229del
NM_001312656.1:c.686_688del NP_001299585.1:p.Ser229del
NM_001312656.2:c.686_688del NP_001299585.1:p.Ser229del
NM_006494.3:c.911_913del NP_006485.2:p.Ser304del
ENST00000222329.8:c.911_913del ENSP00000222329.3:p.Ser304del
ENST00000440177.6:c.686_688del ENSP00000388173.2:p.Ser229del
ENST00000594664.1:c.22+5777_22+5779del ENSP00000470087.1:n.22+5777_22+5779del
XM_011526612.1:c.686_688del XP_011524914.1:p.Ser229del
XM_011526613.1:c.686_688del XP_011524915.1:p.Ser229del
XM_017026468.1:c.686_688del XP_016881957.1:p.Ser229del
XM_017026469.1:c.686_688del XP_016881958.1:p.Ser229del