Canonical Allele Identifier: CA1673108137
Gene: ESR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.151951174_151951175delinsGT , CM000668.2:g.151951174_151951175delinsGT GRCh38
NC_000006.11:g.152272309_152272310delinsGT , CM000668.1:g.152272309_152272310delinsGT GRCh37
NC_000006.10:g.152314002_152314003delinsGT NCBI36
NG_008493.1:g.265679_265680delinsGT
NG_008493.2:g.299484_299485delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000206249.8:c.1096+6666_1096+6667delinsGT MANE Select ENSP00000206249.3:n.1096+6666_1096+6667de...
ENST00000638569.1:c.42+6925_42+6926delinsGT ENSP00000491412.1:n.42+6925_42+6926delins...
ENST00000641399.1:n.424+6666_424+6667delinsGT
ENST00000206249.7:c.1096+6666_1096+6667delinsGT ENSP00000206249.3:n.1096+6666_1096+6667de...
ENST00000338799.9:c.1096+6666_1096+6667delinsGT ENSP00000342630.5:n.1096+6666_1096+6667de...
ENST00000406599.5:c.453-109817_453-109816delinsGT ENSP00000384064.1:n.453-109817_453-109816...
ENST00000415488.1:c.116-60482_116-60481delinsGT ENSP00000401995.1:n.116-60482_116-60481de...
ENST00000427531.6:c.577+6666_577+6667delinsGT ENSP00000394721.2:n.577+6666_577+6667deli...
ENST00000440973.5:c.1096+6666_1096+6667delinsGT ENSP00000405330.1:n.1096+6666_1096+6667de...
ENST00000443427.5:c.1096+6666_1096+6667delinsGT ENSP00000387500.1:n.1096+6666_1096+6667de...
ENST00000456483.3:c.*110+70403_*110+70404delinsGT ENSP00000415934.3:n.*110+70403_*110+70404...
ENST00000482101.1:n.337+6666_337+6667delinsGT
NM_000125.3:c.1096+6666_1096+6667delinsGT NP_000116.2:n.1096+6666_1096+6667delinsGT...
NM_001122740.1:c.1096+6666_1096+6667delinsGT NP_001116212.1:n.1096+6666_1096+6667delin...
NM_001122741.1:c.1096+6666_1096+6667delinsGT NP_001116213.1:n.1096+6666_1096+6667delin...
NM_001122742.1:c.1096+6666_1096+6667delinsGT NP_001116214.1:n.1096+6666_1096+6667delin...
NM_001291230.1:c.1102+6666_1102+6667delinsGT NP_001278159.1:n.1102+6666_1102+6667delin...
NM_001291241.1:c.1093+6666_1093+6667delinsGT NP_001278170.1:n.1093+6666_1093+6667delin...
XM_006715374.2:c.1096+6666_1096+6667delinsGT XP_006715437.1:n.1096+6666_1096+6667delin...
XM_006715375.2:c.577+6666_577+6667delinsGT XP_006715438.1:n.577+6666_577+6667delinsG...
XM_011535543.1:c.1096+6666_1096+6667delinsGT XP_011533845.1:n.1096+6666_1096+6667delin...
XM_011535544.1:c.1096+6666_1096+6667delinsGT XP_011533846.1:n.1096+6666_1096+6667delin...
XM_011535545.1:c.1096+6666_1096+6667delinsGT XP_011533847.1:n.1096+6666_1096+6667delin...
XM_011535546.1:c.1096+6666_1096+6667delinsGT XP_011533848.1:n.1096+6666_1096+6667delin...
XM_011535547.1:c.1096+6666_1096+6667delinsGT XP_011533849.1:n.1096+6666_1096+6667delin...
XM_011535548.1:c.577+6666_577+6667delinsGT XP_011533850.1:n.577+6666_577+6667delinsG...
XM_011535549.1:c.367+6666_367+6667delinsGT XP_011533851.1:n.367+6666_367+6667delinsG...
NM_001328100.1:c.577+6666_577+6667delinsGT NP_001315029.1:n.577+6666_577+6667delinsG...
XM_006715374.3:c.1096+6666_1096+6667delinsGT XP_006715437.1:n.1096+6666_1096+6667delin...
XM_006715375.3:c.577+6666_577+6667delinsGT XP_006715438.1:n.577+6666_577+6667delinsG...
XM_011535543.2:c.1096+6666_1096+6667delinsGT XP_011533845.1:n.1096+6666_1096+6667delin...
XM_011535544.2:c.1096+6666_1096+6667delinsGT XP_011533846.1:n.1096+6666_1096+6667delin...
XM_011535545.2:c.1096+6666_1096+6667delinsGT XP_011533847.1:n.1096+6666_1096+6667delin...
XM_011535547.2:c.1096+6666_1096+6667delinsGT XP_011533849.1:n.1096+6666_1096+6667delin...
XM_011535549.2:c.367+6666_367+6667delinsGT XP_011533851.1:n.367+6666_367+6667delinsG...
XM_017010376.1:c.1096+6666_1096+6667delinsGT XP_016865865.1:n.1096+6666_1096+6667delin...
XM_017010377.1:c.1096+6666_1096+6667delinsGT XP_016865866.1:n.1096+6666_1096+6667delin...
XM_017010378.1:c.1096+6666_1096+6667delinsGT XP_016865867.1:n.1096+6666_1096+6667delin...
XM_017010379.1:c.1096+6666_1096+6667delinsGT XP_016865868.1:n.1096+6666_1096+6667delin...
XM_017010380.1:c.1096+6666_1096+6667delinsGT XP_016865869.1:n.1096+6666_1096+6667delin...
XM_017010381.1:c.1096+6666_1096+6667delinsGT XP_016865870.1:n.1096+6666_1096+6667delin...
XM_017010382.2:c.439+6666_439+6667delinsGT XP_016865871.1:n.439+6666_439+6667delinsG...
XM_017010383.1:c.307+6666_307+6667delinsGT XP_016865872.1:n.307+6666_307+6667delinsG...
XR_001743223.2:n.1466+6666_1466+6667delinsGT
XR_002956266.1:n.1466+6666_1466+6667delinsGT
NM_000125.4:c.1096+6666_1096+6667delinsGT MANE Select NP_000116.2:n.1096+6666_1096+6667delinsGT...
NM_001328100.2:c.577+6666_577+6667delinsGT NP_001315029.1:n.577+6666_577+6667delinsG...
NM_001122740.2:c.1096+6666_1096+6667delinsGT NP_001116212.1:n.1096+6666_1096+6667delin...
NM_001122741.2:c.1096+6666_1096+6667delinsGT NP_001116213.1:n.1096+6666_1096+6667delin...
NM_001122742.2:c.1096+6666_1096+6667delinsGT NP_001116214.1:n.1096+6666_1096+6667delin...
NM_001291230.2:c.1102+6666_1102+6667delinsGT NP_001278159.1:n.1102+6666_1102+6667delin...
NM_001291241.2:c.1093+6666_1093+6667delinsGT NP_001278170.1:n.1093+6666_1093+6667delin...
NM_001385568.1:c.1096+6666_1096+6667delinsGT NP_001372497.1:n.1096+6666_1096+6667delin...
NM_001385569.1:c.1096+6666_1096+6667delinsGT NP_001372498.1:n.1096+6666_1096+6667delin...
NM_001385570.1:c.1096+6666_1096+6667delinsGT NP_001372499.1:n.1096+6666_1096+6667delin...
NM_001385571.1:c.1096+6666_1096+6667delinsGT NP_001372500.1:n.1096+6666_1096+6667delin...
NM_001385572.1:c.1096+6666_1096+6667delinsGT NP_001372501.1:n.1096+6666_1096+6667delin...