Canonical Allele Identifier: CA1673149210
Gene: ESR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152034565_152034566delinsTA , CM000668.2:g.152034565_152034566delinsTA GRCh38
NC_000006.11:g.152355700_152355701delinsTA , CM000668.1:g.152355700_152355701delinsTA GRCh37
NC_000006.10:g.152397393_152397394delinsTA NCBI36
NG_008493.1:g.349070_349071delinsTA
NG_008493.2:g.382875_382876delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000206249.8:c.1235+22771_1235+22772delinsTA MANE Select ENSP00000206249.3:n.1235+22771_1235+22772delinsTA
ENST00000638569.1:c.43-59914_43-59913delinsTA ENSP00000491412.1:n.43-59914_43-59913delinsTA
ENST00000641399.1:n.563+22771_563+22772delinsTA
ENST00000206249.7:c.1235+22771_1235+22772delinsTA ENSP00000206249.3:n.1235+22771_1235+22772delinsTA
ENST00000338799.9:c.1235+22771_1235+22772delinsTA ENSP00000342630.5:n.1235+22771_1235+22772delinsTA
ENST00000406599.5:c.453-26426_453-26425delinsTA ENSP00000384064.1:n.453-26426_453-26425delinsTA
ENST00000415488.1:c.254+22771_254+22772delinsTA ENSP00000401995.1:n.254+22771_254+22772delinsTA
ENST00000427531.6:c.716+22771_716+22772delinsTA ENSP00000394721.2:n.716+22771_716+22772delinsTA
ENST00000440973.5:c.1235+22771_1235+22772delinsTA ENSP00000405330.1:n.1235+22771_1235+22772delinsTA
ENST00000443427.5:c.1235+22771_1235+22772delinsTA ENSP00000387500.1:n.1235+22771_1235+22772delinsTA
ENST00000456483.3:c.*111-26426_*111-26425delinsTA ENSP00000415934.3:n.*111-26426_*111-26425delinsTA
NM_000125.3:c.1235+22771_1235+22772delinsTA NP_000116.2:n.1235+22771_1235+22772delinsTA
NM_001122740.1:c.1235+22771_1235+22772delinsTA NP_001116212.1:n.1235+22771_1235+22772delinsTA
NM_001122741.1:c.1235+22771_1235+22772delinsTA NP_001116213.1:n.1235+22771_1235+22772delinsTA
NM_001122742.1:c.1235+22771_1235+22772delinsTA NP_001116214.1:n.1235+22771_1235+22772delinsTA
NM_001291230.1:c.1241+22771_1241+22772delinsTA NP_001278159.1:n.1241+22771_1241+22772delinsTA
NM_001291241.1:c.1232+22771_1232+22772delinsTA NP_001278170.1:n.1232+22771_1232+22772delinsTA
XM_006715374.2:c.1235+22771_1235+22772delinsTA XP_006715437.1:n.1235+22771_1235+22772delinsTA
XM_006715375.2:c.716+22771_716+22772delinsTA XP_006715438.1:n.716+22771_716+22772delinsTA
XM_011535543.1:c.1235+22771_1235+22772delinsTA XP_011533845.1:n.1235+22771_1235+22772delinsTA
XM_011535544.1:c.1235+22771_1235+22772delinsTA XP_011533846.1:n.1235+22771_1235+22772delinsTA
XM_011535545.1:c.1235+22771_1235+22772delinsTA XP_011533847.1:n.1235+22771_1235+22772delinsTA
XM_011535546.1:c.1235+22771_1235+22772delinsTA XP_011533848.1:n.1235+22771_1235+22772delinsTA
XM_011535547.1:c.1235+22771_1235+22772delinsTA XP_011533849.1:n.1235+22771_1235+22772delinsTA
XM_011535548.1:c.716+22771_716+22772delinsTA XP_011533850.1:n.716+22771_716+22772delinsTA
XM_011535549.1:c.506+22771_506+22772delinsTA XP_011533851.1:n.506+22771_506+22772delinsTA
NM_001328100.1:c.716+22771_716+22772delinsTA NP_001315029.1:n.716+22771_716+22772delinsTA
XM_006715374.3:c.1235+22771_1235+22772delinsTA XP_006715437.1:n.1235+22771_1235+22772delinsTA
XM_006715375.3:c.716+22771_716+22772delinsTA XP_006715438.1:n.716+22771_716+22772delinsTA
XM_011535543.2:c.1235+22771_1235+22772delinsTA XP_011533845.1:n.1235+22771_1235+22772delinsTA
XM_011535544.2:c.1235+22771_1235+22772delinsTA XP_011533846.1:n.1235+22771_1235+22772delinsTA
XM_011535545.2:c.1235+22771_1235+22772delinsTA XP_011533847.1:n.1235+22771_1235+22772delinsTA
XM_011535547.2:c.1235+22771_1235+22772delinsTA XP_011533849.1:n.1235+22771_1235+22772delinsTA
XM_011535549.2:c.506+22771_506+22772delinsTA XP_011533851.1:n.506+22771_506+22772delinsTA
XM_017010376.1:c.1235+22771_1235+22772delinsTA XP_016865865.1:n.1235+22771_1235+22772delinsTA
XM_017010377.1:c.1235+22771_1235+22772delinsTA XP_016865866.1:n.1235+22771_1235+22772delinsTA
XM_017010378.1:c.1235+22771_1235+22772delinsTA XP_016865867.1:n.1235+22771_1235+22772delinsTA
XM_017010379.1:c.1235+22771_1235+22772delinsTA XP_016865868.1:n.1235+22771_1235+22772delinsTA
XM_017010380.1:c.1235+22771_1235+22772delinsTA XP_016865869.1:n.1235+22771_1235+22772delinsTA
XM_017010381.1:c.1235+22771_1235+22772delinsTA XP_016865870.1:n.1235+22771_1235+22772delinsTA
XM_017010382.2:c.578+22771_578+22772delinsTA XP_016865871.1:n.578+22771_578+22772delinsTA
XM_017010383.1:c.446+22771_446+22772delinsTA XP_016865872.1:n.446+22771_446+22772delinsTA
XR_001743223.2:n.1467-26426_1467-26425delinsTA
XR_002956266.1:n.1467-26426_1467-26425delinsTA
NM_000125.4:c.1235+22771_1235+22772delinsTA MANE Select NP_000116.2:n.1235+22771_1235+22772delinsTA
NM_001328100.2:c.716+22771_716+22772delinsTA NP_001315029.1:n.716+22771_716+22772delinsTA
NM_001122740.2:c.1235+22771_1235+22772delinsTA NP_001116212.1:n.1235+22771_1235+22772delinsTA
NM_001122741.2:c.1235+22771_1235+22772delinsTA NP_001116213.1:n.1235+22771_1235+22772delinsTA
NM_001122742.2:c.1235+22771_1235+22772delinsTA NP_001116214.1:n.1235+22771_1235+22772delinsTA
NM_001291230.2:c.1241+22771_1241+22772delinsTA NP_001278159.1:n.1241+22771_1241+22772delinsTA
NM_001291241.2:c.1232+22771_1232+22772delinsTA NP_001278170.1:n.1232+22771_1232+22772delinsTA
NM_001385568.1:c.1235+22771_1235+22772delinsTA NP_001372497.1:n.1235+22771_1235+22772delinsTA
NM_001385569.1:c.1235+22771_1235+22772delinsTA NP_001372498.1:n.1235+22771_1235+22772delinsTA
NM_001385570.1:c.1235+22771_1235+22772delinsTA NP_001372499.1:n.1235+22771_1235+22772delinsTA
NM_001385571.1:c.1235+22771_1235+22772delinsTA NP_001372500.1:n.1235+22771_1235+22772delinsTA
NM_001385572.1:c.1235+22771_1235+22772delinsTA NP_001372501.1:n.1235+22771_1235+22772delinsTA