Canonical Allele Identifier: CA126692
Gene: ESR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16590
ClinVar RCV Id: RCV000018058
dbSNP Id: rs121913043

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152061094_152061095delinsGC , CM000668.2:g.152061094_152061095delinsGC GRCh38
NC_000006.11:g.152382229_152382230delinsGC , CM000668.1:g.152382229_152382230delinsGC GRCh37
NC_000006.10:g.152423922_152423923delinsGC NCBI36
NG_008493.1:g.375599_375600delinsGC
NG_008493.2:g.409404_409405delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000206249.8:c.1339_1340delinsGC MANE Select ENSP00000206249.3:p.Cys447Ala
ENST00000638569.1:n.43-33385_43-33384delinsGC ENSP00000491412.1:p.=
ENST00000641399.1:n.667_668delinsGC
ENST00000206249.7:c.1339_1340delinsGC ENSP00000206249.3:p.Cys447Ala
ENST00000338799.9:c.1339_1340delinsGC ENSP00000342630.5:p.Cys447Ala
ENST00000406599.5:c.556_557delinsGC ENSP00000384064.1:p.Cys186Ala
ENST00000427531.6:c.820_821delinsGC ENSP00000394721.2:p.Cys274Ala
ENST00000440973.5:c.1339_1340delinsGC ENSP00000405330.1:p.Cys447Ala
ENST00000443427.5:c.1339_1340delinsGC ENSP00000387500.1:p.Cys447Ala
ENST00000456483.3:c.*214_*215delinsGC ENSP00000415934.3:p.=
NM_000125.3:c.1339_1340delinsGC NP_000116.2:p.Cys447Ala
NM_001122740.1:c.1339_1340delinsGC NP_001116212.1:p.Cys447Ala
NM_001122741.1:c.1339_1340delinsGC NP_001116213.1:p.Cys447Ala
NM_001122742.1:c.1339_1340delinsGC NP_001116214.1:p.Cys447Ala
NM_001291230.1:c.1345_1346delinsGC NP_001278159.1:p.Cys449Ala
NM_001291241.1:c.1336_1337delinsGC NP_001278170.1:p.Cys446Ala
XM_006715374.2:c.1339_1340delinsGC XP_006715437.1:p.Cys447Ala
XM_006715375.2:c.820_821delinsGC XP_006715438.1:p.Cys274Ala
XM_011535543.1:c.1339_1340delinsGC XP_011533845.1:p.Cys447Ala
XM_011535544.1:c.1339_1340delinsGC XP_011533846.1:p.Cys447Ala
XM_011535545.1:c.1339_1340delinsGC XP_011533847.1:p.Cys447Ala
XM_011535546.1:c.1339_1340delinsGC XP_011533848.1:p.Cys447Ala
XM_011535547.1:c.1339_1340delinsGC XP_011533849.1:p.Cys447Ala
XM_011535548.1:c.820_821delinsGC XP_011533850.1:p.Cys274Ala
XM_011535549.1:c.610_611delinsGC XP_011533851.1:p.Cys204Ala
NM_001328100.1:c.820_821delinsGC NP_001315029.1:p.Cys274Ala
XM_006715374.3:c.1339_1340delinsGC XP_006715437.1:p.Cys447Ala
XM_006715375.3:c.820_821delinsGC XP_006715438.1:p.Cys274Ala
XM_011535543.2:c.1339_1340delinsGC XP_011533845.1:p.Cys447Ala
XM_011535544.2:c.1339_1340delinsGC XP_011533846.1:p.Cys447Ala
XM_011535545.2:c.1339_1340delinsGC XP_011533847.1:p.Cys447Ala
XM_011535547.2:c.1339_1340delinsGC XP_011533849.1:p.Cys447Ala
XM_011535549.2:c.610_611delinsGC XP_011533851.1:p.Cys204Ala
XM_017010376.1:c.1339_1340delinsGC XP_016865865.1:p.Cys447Ala
XM_017010377.1:c.1339_1340delinsGC XP_016865866.1:p.Cys447Ala
XM_017010378.1:c.1339_1340delinsGC XP_016865867.1:p.Cys447Ala
XM_017010379.1:c.1339_1340delinsGC XP_016865868.1:p.Cys447Ala
XM_017010380.1:c.1339_1340delinsGC XP_016865869.1:p.Cys447Ala
XM_017010381.1:c.1339_1340delinsGC XP_016865870.1:p.Cys447Ala
XM_017010382.2:c.682_683delinsGC XP_016865871.1:p.Cys228Ala
XM_017010383.1:c.550_551delinsGC XP_016865872.1:p.Cys184Ala
XR_001743223.2:n.1570_1571delinsGC
XR_002956266.1:n.1570_1571delinsGC
NM_000125.4:c.1339_1340delinsGC MANE Select NP_000116.2:p.Cys447Ala
NM_001328100.2:c.820_821delinsGC NP_001315029.1:p.Cys274Ala
NM_001122740.2:c.1339_1340delinsGC NP_001116212.1:p.Cys447Ala
NM_001122741.2:c.1339_1340delinsGC NP_001116213.1:p.Cys447Ala
NM_001122742.2:c.1339_1340delinsGC NP_001116214.1:p.Cys447Ala
NM_001291230.2:c.1345_1346delinsGC NP_001278159.1:p.Cys449Ala
NM_001291241.2:c.1336_1337delinsGC NP_001278170.1:p.Cys446Ala
NM_001385568.1:c.1339_1340delinsGC NP_001372497.1:p.Cys447Ala
NM_001385569.1:c.1339_1340delinsGC NP_001372498.1:p.Cys447Ala
NM_001385570.1:c.1339_1340delinsGC NP_001372499.1:p.Cys447Ala
NM_001385571.1:c.1339_1340delinsGC NP_001372500.1:p.Cys447Ala
NM_001385572.1:c.1339_1340delinsGC NP_001372501.1:p.Cys447Ala