Canonical Allele Identifier: CA1673102200
Gene: ESR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.151944510_151944519delinsTAAGAATGCG , CM000668.2:g.151944510_151944519delinsTAAGAATGCG GRCh38
NC_000006.11:g.152265645_152265654delinsTAAGAATGCG , CM000668.1:g.152265645_152265654delinsTAAGAATGCG GRCh37
NC_000006.10:g.152307338_152307347delinsTAAGAATGCG NCBI36
NG_008493.1:g.259015_259024delinsTAAGAATGCG
NG_008493.2:g.292820_292829delinsTAAGAATGCG

Transcript Alleles

HGVS Amino-acid change
ENST00000206249.8:c.1096+2_1096+11delinsTAAGAATGCG MANE Select ENSP00000206249.3:n.1096+2_1096+11delinsT...
ENST00000638569.1:c.42+261_42+270delinsTAAGAATGCG ENSP00000491412.1:n.42+261_42+270delinsTA...
ENST00000641399.1:n.424+2_424+11delinsTAAGAATGCG
ENST00000206249.7:c.1096+2_1096+11delinsTAAGAATGCG ENSP00000206249.3:n.1096+2_1096+11delinsT...
ENST00000338799.9:c.1096+2_1096+11delinsTAAGAATGCG ENSP00000342630.5:n.1096+2_1096+11delinsT...
ENST00000406599.5:c.453-116481_453-116472delinsTAAGAATGCG ENSP00000384064.1:n.453-116481_453-116472...
ENST00000415488.1:c.115+63739_115+63748delinsTAAGAATGCG ENSP00000401995.1:n.115+63739_115+63748de...
ENST00000427531.6:c.577+2_577+11delinsTAAGAATGCG ENSP00000394721.2:n.577+2_577+11delinsTAA...
ENST00000440973.5:c.1096+2_1096+11delinsTAAGAATGCG ENSP00000405330.1:n.1096+2_1096+11delinsT...
ENST00000443427.5:c.1096+2_1096+11delinsTAAGAATGCG ENSP00000387500.1:n.1096+2_1096+11delinsT...
ENST00000456483.3:c.*110+63739_*110+63748delinsTAAGAATGCG ENSP00000415934.3:n.*110+63739_*110+63748...
ENST00000482101.1:n.337+2_337+11delinsTAAGAATGCG
NM_000125.3:c.1096+2_1096+11delinsTAAGAATGCG NP_000116.2:n.1096+2_1096+11delinsTAAGAAT...
NM_001122740.1:c.1096+2_1096+11delinsTAAGAATGCG NP_001116212.1:n.1096+2_1096+11delinsTAAG...
NM_001122741.1:c.1096+2_1096+11delinsTAAGAATGCG NP_001116213.1:n.1096+2_1096+11delinsTAAG...
NM_001122742.1:c.1096+2_1096+11delinsTAAGAATGCG NP_001116214.1:n.1096+2_1096+11delinsTAAG...
NM_001291230.1:c.1102+2_1102+11delinsTAAGAATGCG NP_001278159.1:n.1102+2_1102+11delinsTAAG...
NM_001291241.1:c.1093+2_1093+11delinsTAAGAATGCG NP_001278170.1:n.1093+2_1093+11delinsTAAG...
XM_006715374.2:c.1096+2_1096+11delinsTAAGAATGCG XP_006715437.1:n.1096+2_1096+11delinsTAAG...
XM_006715375.2:c.577+2_577+11delinsTAAGAATGCG XP_006715438.1:n.577+2_577+11delinsTAAGAA...
XM_011535543.1:c.1096+2_1096+11delinsTAAGAATGCG XP_011533845.1:n.1096+2_1096+11delinsTAAG...
XM_011535544.1:c.1096+2_1096+11delinsTAAGAATGCG XP_011533846.1:n.1096+2_1096+11delinsTAAG...
XM_011535545.1:c.1096+2_1096+11delinsTAAGAATGCG XP_011533847.1:n.1096+2_1096+11delinsTAAG...
XM_011535546.1:c.1096+2_1096+11delinsTAAGAATGCG XP_011533848.1:n.1096+2_1096+11delinsTAAG...
XM_011535547.1:c.1096+2_1096+11delinsTAAGAATGCG XP_011533849.1:n.1096+2_1096+11delinsTAAG...
XM_011535548.1:c.577+2_577+11delinsTAAGAATGCG XP_011533850.1:n.577+2_577+11delinsTAAGAA...
XM_011535549.1:c.367+2_367+11delinsTAAGAATGCG XP_011533851.1:n.367+2_367+11delinsTAAGAA...
NM_001328100.1:c.577+2_577+11delinsTAAGAATGCG NP_001315029.1:n.577+2_577+11delinsTAAGAA...
XM_006715374.3:c.1096+2_1096+11delinsTAAGAATGCG XP_006715437.1:n.1096+2_1096+11delinsTAAG...
XM_006715375.3:c.577+2_577+11delinsTAAGAATGCG XP_006715438.1:n.577+2_577+11delinsTAAGAA...
XM_011535543.2:c.1096+2_1096+11delinsTAAGAATGCG XP_011533845.1:n.1096+2_1096+11delinsTAAG...
XM_011535544.2:c.1096+2_1096+11delinsTAAGAATGCG XP_011533846.1:n.1096+2_1096+11delinsTAAG...
XM_011535545.2:c.1096+2_1096+11delinsTAAGAATGCG XP_011533847.1:n.1096+2_1096+11delinsTAAG...
XM_011535547.2:c.1096+2_1096+11delinsTAAGAATGCG XP_011533849.1:n.1096+2_1096+11delinsTAAG...
XM_011535549.2:c.367+2_367+11delinsTAAGAATGCG XP_011533851.1:n.367+2_367+11delinsTAAGAA...
XM_017010376.1:c.1096+2_1096+11delinsTAAGAATGCG XP_016865865.1:n.1096+2_1096+11delinsTAAG...
XM_017010377.1:c.1096+2_1096+11delinsTAAGAATGCG XP_016865866.1:n.1096+2_1096+11delinsTAAG...
XM_017010378.1:c.1096+2_1096+11delinsTAAGAATGCG XP_016865867.1:n.1096+2_1096+11delinsTAAG...
XM_017010379.1:c.1096+2_1096+11delinsTAAGAATGCG XP_016865868.1:n.1096+2_1096+11delinsTAAG...
XM_017010380.1:c.1096+2_1096+11delinsTAAGAATGCG XP_016865869.1:n.1096+2_1096+11delinsTAAG...
XM_017010381.1:c.1096+2_1096+11delinsTAAGAATGCG XP_016865870.1:n.1096+2_1096+11delinsTAAG...
XM_017010382.2:c.439+2_439+11delinsTAAGAATGCG XP_016865871.1:n.439+2_439+11delinsTAAGAA...
XM_017010383.1:c.307+2_307+11delinsTAAGAATGCG XP_016865872.1:n.307+2_307+11delinsTAAGAA...
XR_001743223.2:n.1466+2_1466+11delinsTAAGAATGCG
XR_002956266.1:n.1466+2_1466+11delinsTAAGAATGCG
NM_000125.4:c.1096+2_1096+11delinsTAAGAATGCG MANE Select NP_000116.2:n.1096+2_1096+11delinsTAAGAAT...
NM_001328100.2:c.577+2_577+11delinsTAAGAATGCG NP_001315029.1:n.577+2_577+11delinsTAAGAA...
NM_001122740.2:c.1096+2_1096+11delinsTAAGAATGCG NP_001116212.1:n.1096+2_1096+11delinsTAAG...
NM_001122741.2:c.1096+2_1096+11delinsTAAGAATGCG NP_001116213.1:n.1096+2_1096+11delinsTAAG...
NM_001122742.2:c.1096+2_1096+11delinsTAAGAATGCG NP_001116214.1:n.1096+2_1096+11delinsTAAG...
NM_001291230.2:c.1102+2_1102+11delinsTAAGAATGCG NP_001278159.1:n.1102+2_1102+11delinsTAAG...
NM_001291241.2:c.1093+2_1093+11delinsTAAGAATGCG NP_001278170.1:n.1093+2_1093+11delinsTAAG...
NM_001385568.1:c.1096+2_1096+11delinsTAAGAATGCG NP_001372497.1:n.1096+2_1096+11delinsTAAG...
NM_001385569.1:c.1096+2_1096+11delinsTAAGAATGCG NP_001372498.1:n.1096+2_1096+11delinsTAAG...
NM_001385570.1:c.1096+2_1096+11delinsTAAGAATGCG NP_001372499.1:n.1096+2_1096+11delinsTAAG...
NM_001385571.1:c.1096+2_1096+11delinsTAAGAATGCG NP_001372500.1:n.1096+2_1096+11delinsTAAG...
NM_001385572.1:c.1096+2_1096+11delinsTAAGAATGCG NP_001372501.1:n.1096+2_1096+11delinsTAAG...
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