Canonical Allele Identifier: CA1673108082
Gene: ESR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.151951086_151951089delinsATTG , CM000668.2:g.151951086_151951089delinsATTG GRCh38
NC_000006.11:g.152272221_152272224delinsATTG , CM000668.1:g.152272221_152272224delinsATTG GRCh37
NC_000006.10:g.152313914_152313917delinsATTG NCBI36
NG_008493.1:g.265591_265594delinsATTG
NG_008493.2:g.299396_299399delinsATTG

Transcript Alleles

HGVS Amino-acid change
ENST00000206249.8:c.1096+6578_1096+6581delinsATTG MANE Select ENSP00000206249.3:n.1096+6578_1096+6581delinsATTG
ENST00000638569.1:c.42+6837_42+6840delinsATTG ENSP00000491412.1:n.42+6837_42+6840delinsATTG
ENST00000641399.1:n.424+6578_424+6581delinsATTG
ENST00000206249.7:c.1096+6578_1096+6581delinsATTG ENSP00000206249.3:n.1096+6578_1096+6581delinsATTG
ENST00000338799.9:c.1096+6578_1096+6581delinsATTG ENSP00000342630.5:n.1096+6578_1096+6581delinsATTG
ENST00000406599.5:c.453-109905_453-109902delinsATTG ENSP00000384064.1:n.453-109905_453-109902delinsATTG
ENST00000415488.1:c.116-60570_116-60567delinsATTG ENSP00000401995.1:n.116-60570_116-60567delinsATTG
ENST00000427531.6:c.577+6578_577+6581delinsATTG ENSP00000394721.2:n.577+6578_577+6581delinsATTG
ENST00000440973.5:c.1096+6578_1096+6581delinsATTG ENSP00000405330.1:n.1096+6578_1096+6581delinsATTG
ENST00000443427.5:c.1096+6578_1096+6581delinsATTG ENSP00000387500.1:n.1096+6578_1096+6581delinsATTG
ENST00000456483.3:c.*110+70315_*110+70318delinsATTG ENSP00000415934.3:n.*110+70315_*110+70318delinsATTG
ENST00000482101.1:n.337+6578_337+6581delinsATTG
NM_000125.3:c.1096+6578_1096+6581delinsATTG NP_000116.2:n.1096+6578_1096+6581delinsATTG
NM_001122740.1:c.1096+6578_1096+6581delinsATTG NP_001116212.1:n.1096+6578_1096+6581delinsATTG
NM_001122741.1:c.1096+6578_1096+6581delinsATTG NP_001116213.1:n.1096+6578_1096+6581delinsATTG
NM_001122742.1:c.1096+6578_1096+6581delinsATTG NP_001116214.1:n.1096+6578_1096+6581delinsATTG
NM_001291230.1:c.1102+6578_1102+6581delinsATTG NP_001278159.1:n.1102+6578_1102+6581delinsATTG
NM_001291241.1:c.1093+6578_1093+6581delinsATTG NP_001278170.1:n.1093+6578_1093+6581delinsATTG
XM_006715374.2:c.1096+6578_1096+6581delinsATTG XP_006715437.1:n.1096+6578_1096+6581delinsATTG
XM_006715375.2:c.577+6578_577+6581delinsATTG XP_006715438.1:n.577+6578_577+6581delinsATTG
XM_011535543.1:c.1096+6578_1096+6581delinsATTG XP_011533845.1:n.1096+6578_1096+6581delinsATTG
XM_011535544.1:c.1096+6578_1096+6581delinsATTG XP_011533846.1:n.1096+6578_1096+6581delinsATTG
XM_011535545.1:c.1096+6578_1096+6581delinsATTG XP_011533847.1:n.1096+6578_1096+6581delinsATTG
XM_011535546.1:c.1096+6578_1096+6581delinsATTG XP_011533848.1:n.1096+6578_1096+6581delinsATTG
XM_011535547.1:c.1096+6578_1096+6581delinsATTG XP_011533849.1:n.1096+6578_1096+6581delinsATTG
XM_011535548.1:c.577+6578_577+6581delinsATTG XP_011533850.1:n.577+6578_577+6581delinsATTG
XM_011535549.1:c.367+6578_367+6581delinsATTG XP_011533851.1:n.367+6578_367+6581delinsATTG
NM_001328100.1:c.577+6578_577+6581delinsATTG NP_001315029.1:n.577+6578_577+6581delinsATTG
XM_006715374.3:c.1096+6578_1096+6581delinsATTG XP_006715437.1:n.1096+6578_1096+6581delinsATTG
XM_006715375.3:c.577+6578_577+6581delinsATTG XP_006715438.1:n.577+6578_577+6581delinsATTG
XM_011535543.2:c.1096+6578_1096+6581delinsATTG XP_011533845.1:n.1096+6578_1096+6581delinsATTG
XM_011535544.2:c.1096+6578_1096+6581delinsATTG XP_011533846.1:n.1096+6578_1096+6581delinsATTG
XM_011535545.2:c.1096+6578_1096+6581delinsATTG XP_011533847.1:n.1096+6578_1096+6581delinsATTG
XM_011535547.2:c.1096+6578_1096+6581delinsATTG XP_011533849.1:n.1096+6578_1096+6581delinsATTG
XM_011535549.2:c.367+6578_367+6581delinsATTG XP_011533851.1:n.367+6578_367+6581delinsATTG
XM_017010376.1:c.1096+6578_1096+6581delinsATTG XP_016865865.1:n.1096+6578_1096+6581delinsATTG
XM_017010377.1:c.1096+6578_1096+6581delinsATTG XP_016865866.1:n.1096+6578_1096+6581delinsATTG
XM_017010378.1:c.1096+6578_1096+6581delinsATTG XP_016865867.1:n.1096+6578_1096+6581delinsATTG
XM_017010379.1:c.1096+6578_1096+6581delinsATTG XP_016865868.1:n.1096+6578_1096+6581delinsATTG
XM_017010380.1:c.1096+6578_1096+6581delinsATTG XP_016865869.1:n.1096+6578_1096+6581delinsATTG
XM_017010381.1:c.1096+6578_1096+6581delinsATTG XP_016865870.1:n.1096+6578_1096+6581delinsATTG
XM_017010382.2:c.439+6578_439+6581delinsATTG XP_016865871.1:n.439+6578_439+6581delinsATTG
XM_017010383.1:c.307+6578_307+6581delinsATTG XP_016865872.1:n.307+6578_307+6581delinsATTG
XR_001743223.2:n.1466+6578_1466+6581delinsATTG
XR_002956266.1:n.1466+6578_1466+6581delinsATTG
NM_000125.4:c.1096+6578_1096+6581delinsATTG MANE Select NP_000116.2:n.1096+6578_1096+6581delinsATTG
NM_001328100.2:c.577+6578_577+6581delinsATTG NP_001315029.1:n.577+6578_577+6581delinsATTG
NM_001122740.2:c.1096+6578_1096+6581delinsATTG NP_001116212.1:n.1096+6578_1096+6581delinsATTG
NM_001122741.2:c.1096+6578_1096+6581delinsATTG NP_001116213.1:n.1096+6578_1096+6581delinsATTG
NM_001122742.2:c.1096+6578_1096+6581delinsATTG NP_001116214.1:n.1096+6578_1096+6581delinsATTG
NM_001291230.2:c.1102+6578_1102+6581delinsATTG NP_001278159.1:n.1102+6578_1102+6581delinsATTG
NM_001291241.2:c.1093+6578_1093+6581delinsATTG NP_001278170.1:n.1093+6578_1093+6581delinsATTG
NM_001385568.1:c.1096+6578_1096+6581delinsATTG NP_001372497.1:n.1096+6578_1096+6581delinsATTG
NM_001385569.1:c.1096+6578_1096+6581delinsATTG NP_001372498.1:n.1096+6578_1096+6581delinsATTG
NM_001385570.1:c.1096+6578_1096+6581delinsATTG NP_001372499.1:n.1096+6578_1096+6581delinsATTG
NM_001385571.1:c.1096+6578_1096+6581delinsATTG NP_001372500.1:n.1096+6578_1096+6581delinsATTG
NM_001385572.1:c.1096+6578_1096+6581delinsATTG NP_001372501.1:n.1096+6578_1096+6581delinsATTG