Canonical Allele Identifier: CA917889648
Gene: ESR1 HGNC NCBI

Linked Data

dbSNP Id: rs1562738764

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152060810del , CM000668.2:g.152060810del GRCh38
NC_000006.11:g.152381945del , CM000668.1:g.152381945del GRCh37
NC_000006.10:g.152423638del NCBI36
NG_008493.1:g.375315del
NG_008493.2:g.409120del

Transcript Alleles

HGVS Amino-acid Change
ENST00000206249.8:c.1236-181del MANE Select ENSP00000206249.3:n.1236-181del
ENST00000638569.1:c.43-33669del ENSP00000491412.1:n.43-33669del
ENST00000641399.1:n.564-181del
ENST00000206249.7:c.1236-181del ENSP00000206249.3:n.1236-181del
ENST00000338799.9:c.1236-181del ENSP00000342630.5:n.1236-181del
ENST00000406599.5:c.453-181del ENSP00000384064.1:n.453-181del
ENST00000415488.1:c.255-181del ENSP00000401995.1:n.255-181del
ENST00000427531.6:c.717-181del ENSP00000394721.2:n.717-181del
ENST00000440973.5:c.1236-181del ENSP00000405330.1:n.1236-181del
ENST00000443427.5:c.1236-181del ENSP00000387500.1:n.1236-181del
ENST00000456483.3:c.*111-181del ENSP00000415934.3:n.*111-181del
NM_000125.3:c.1236-181del NP_000116.2:n.1236-181del
NM_001122740.1:c.1236-181del NP_001116212.1:n.1236-181del
NM_001122741.1:c.1236-181del NP_001116213.1:n.1236-181del
NM_001122742.1:c.1236-181del NP_001116214.1:n.1236-181del
NM_001291230.1:c.1242-181del NP_001278159.1:n.1242-181del
NM_001291241.1:c.1233-181del NP_001278170.1:n.1233-181del
XM_006715374.2:c.1236-181del XP_006715437.1:n.1236-181del
XM_006715375.2:c.717-181del XP_006715438.1:n.717-181del
XM_011535543.1:c.1236-181del XP_011533845.1:n.1236-181del
XM_011535544.1:c.1236-181del XP_011533846.1:n.1236-181del
XM_011535545.1:c.1236-181del XP_011533847.1:n.1236-181del
XM_011535546.1:c.1236-181del XP_011533848.1:n.1236-181del
XM_011535547.1:c.1236-181del XP_011533849.1:n.1236-181del
XM_011535548.1:c.717-181del XP_011533850.1:n.717-181del
XM_011535549.1:c.507-181del XP_011533851.1:n.507-181del
NM_001328100.1:c.717-181del NP_001315029.1:n.717-181del
XM_006715374.3:c.1236-181del XP_006715437.1:n.1236-181del
XM_006715375.3:c.717-181del XP_006715438.1:n.717-181del
XM_011535543.2:c.1236-181del XP_011533845.1:n.1236-181del
XM_011535544.2:c.1236-181del XP_011533846.1:n.1236-181del
XM_011535545.2:c.1236-181del XP_011533847.1:n.1236-181del
XM_011535547.2:c.1236-181del XP_011533849.1:n.1236-181del
XM_011535549.2:c.507-181del XP_011533851.1:n.507-181del
XM_017010376.1:c.1236-181del XP_016865865.1:n.1236-181del
XM_017010377.1:c.1236-181del XP_016865866.1:n.1236-181del
XM_017010378.1:c.1236-181del XP_016865867.1:n.1236-181del
XM_017010379.1:c.1236-181del XP_016865868.1:n.1236-181del
XM_017010380.1:c.1236-181del XP_016865869.1:n.1236-181del
XM_017010381.1:c.1236-181del XP_016865870.1:n.1236-181del
XM_017010382.2:c.579-181del XP_016865871.1:n.579-181del
XM_017010383.1:c.447-181del XP_016865872.1:n.447-181del
XR_001743223.2:n.1467-181del
XR_002956266.1:n.1467-181del
NM_000125.4:c.1236-181del MANE Select NP_000116.2:n.1236-181del
NM_001328100.2:c.717-181del NP_001315029.1:n.717-181del
NM_001122740.2:c.1236-181del NP_001116212.1:n.1236-181del
NM_001122741.2:c.1236-181del NP_001116213.1:n.1236-181del
NM_001122742.2:c.1236-181del NP_001116214.1:n.1236-181del
NM_001291230.2:c.1242-181del NP_001278159.1:n.1242-181del
NM_001291241.2:c.1233-181del NP_001278170.1:n.1233-181del
NM_001385568.1:c.1236-181del NP_001372497.1:n.1236-181del
NM_001385569.1:c.1236-181del NP_001372498.1:n.1236-181del
NM_001385570.1:c.1236-181del NP_001372499.1:n.1236-181del
NM_001385571.1:c.1236-181del NP_001372500.1:n.1236-181del
NM_001385572.1:c.1236-181del NP_001372501.1:n.1236-181del