Canonical Allele Identifier: CA2713489863
Gene: ESR1 HGNC NCBI

Linked Data

dbSNP Id: rs2152506919

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152098859del , CM000668.2:g.152098859del GRCh38
NC_000006.11:g.152419994del , CM000668.1:g.152419994del GRCh37
NC_000006.10:g.152461687del NCBI36
NG_008493.1:g.413364del
NG_008493.2:g.447169del

Transcript Alleles

HGVS Amino-acid Change
ENST00000206249.8:c.1681del MANE Select ENSP00000206249.3:p.Glu561ArgfsTer?
ENST00000641399.1:n.1009del
ENST00000206249.7:c.1681del ENSP00000206249.3:p.Glu561ArgfsTer?
ENST00000338799.9:c.1681del ENSP00000342630.5:p.Glu561ArgfsTer?
ENST00000406599.5:c.898del ENSP00000384064.1:p.Glu300ArgfsTer?
ENST00000427531.6:c.851-26407del ENSP00000394721.2:n.851-26407del
ENST00000440973.5:c.1681del ENSP00000405330.1:p.Glu561ArgfsTer?
ENST00000443427.5:c.1681del ENSP00000387500.1:p.Glu561ArgfsTer?
ENST00000456483.3:c.*556del ENSP00000415934.3:n.*556del
NM_000125.3:c.1681del NP_000116.2:p.Glu561ArgfsTer?
NM_001122740.1:c.1681del NP_001116212.1:p.Glu561ArgfsTer?
NM_001122741.1:c.1681del NP_001116213.1:p.Glu561ArgfsTer?
NM_001122742.1:c.1681del NP_001116214.1:p.Glu561ArgfsTer?
NM_001291230.1:c.1687del NP_001278159.1:p.Glu563ArgfsTer?
NM_001291241.1:c.1678del NP_001278170.1:p.Glu560ArgfsTer?
XM_006715374.2:c.*96del XP_006715437.1:n.*96del
XM_006715375.2:c.1162del XP_006715438.1:p.Glu388ArgfsTer?
XM_011535543.1:c.1681del XP_011533845.1:p.Glu561ArgfsTer?
XM_011535544.1:c.1681del XP_011533846.1:p.Glu561ArgfsTer?
XM_011535545.1:c.1681del XP_011533847.1:p.Glu561ArgfsTer?
XM_011535546.1:c.1681del XP_011533848.1:p.Glu561ArgfsTer?
XM_011535548.1:c.1162del XP_011533850.1:p.Glu388ArgfsTer?
XM_011535549.1:c.952del XP_011533851.1:p.Glu318ArgfsTer?
NM_001328100.1:c.851-26407del NP_001315029.1:n.851-26407del
XM_006715374.3:c.*96del XP_006715437.1:n.*96del
XM_006715375.3:c.1162del XP_006715438.1:p.Glu388ArgfsTer?
XM_011535543.2:c.1681del XP_011533845.1:p.Glu561ArgfsTer?
XM_011535544.2:c.1681del XP_011533846.1:p.Glu561ArgfsTer?
XM_011535545.2:c.1681del XP_011533847.1:p.Glu561ArgfsTer?
XM_011535549.2:c.952del XP_011533851.1:p.Glu318ArgfsTer?
XM_017010376.1:c.1681del XP_016865865.1:p.Glu561ArgfsTer?
XM_017010377.1:c.1681del XP_016865866.1:p.Glu561ArgfsTer?
XM_017010378.1:c.1681del XP_016865867.1:p.Glu561ArgfsTer?
XM_017010379.1:c.1681del XP_016865868.1:p.Glu561ArgfsTer?
XM_017010380.1:c.1681del XP_016865869.1:p.Glu561ArgfsTer?
XM_017010381.1:c.1681del XP_016865870.1:p.Glu561ArgfsTer?
XM_017010382.2:c.1024del XP_016865871.1:p.Glu342ArgfsTer?
XM_017010383.1:c.892del XP_016865872.1:p.Glu298ArgfsTer?
XR_001743223.2:n.1728del
NM_000125.4:c.1681del MANE Select NP_000116.2:p.Glu561ArgfsTer?
NM_001328100.2:c.851-26407del NP_001315029.1:n.851-26407del
NM_001122740.2:c.1681del NP_001116212.1:p.Glu561ArgfsTer?
NM_001122741.2:c.1681del NP_001116213.1:p.Glu561ArgfsTer?
NM_001122742.2:c.1681del NP_001116214.1:p.Glu561ArgfsTer?
NM_001291230.2:c.1687del NP_001278159.1:p.Glu563ArgfsTer?
NM_001291241.2:c.1678del NP_001278170.1:p.Glu560ArgfsTer?
NM_001385568.1:c.1681del NP_001372497.1:p.Glu561ArgfsTer?
NM_001385569.1:c.1681del NP_001372498.1:p.Glu561ArgfsTer?
NM_001385570.1:c.*96del NP_001372499.1:n.*96del
NM_001385571.1:c.*96del NP_001372500.1:n.*96del
NM_001385572.1:c.*96del NP_001372501.1:n.*96del