Canonical Allele Identifier: CA2605321360
Gene: ESR1 HGNC NCBI

Linked Data

gnomAD v3: 6-151984288-T-TGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA
gnomAD v4: 6-151984288-T-TGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.151984288_151984289insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA , CM000668.2:g.151984288_151984289insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA GRCh38
NC_000006.11:g.152305423_152305424insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA , CM000668.1:g.152305423_152305424insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA GRCh37
NC_000006.10:g.152347116_152347117insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA NCBI36
NG_008493.1:g.298793_298794insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA
NG_008493.2:g.332598_332599insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA

Transcript Alleles

HGVS Amino-acid change
ENST00000206249.8:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA MANE Select ENSP00000206249.3:n.1097-27368_1097-27367...
ENST00000638569.1:c.42+40039_42+40040insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA ENSP00000491412.1:n.42+40039_42+40040insG...
ENST00000641399.1:n.425-27368_425-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA
ENST00000206249.7:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA ENSP00000206249.3:n.1097-27368_1097-27367...
ENST00000338799.9:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA ENSP00000342630.5:n.1097-27368_1097-27367...
ENST00000406599.5:c.453-76703_453-76702insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA ENSP00000384064.1:n.453-76703_453-76702in...
ENST00000415488.1:c.116-27368_116-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA ENSP00000401995.1:n.116-27368_116-27367in...
ENST00000427531.6:c.578-27368_578-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA ENSP00000394721.2:n.578-27368_578-27367in...
ENST00000440973.5:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA ENSP00000405330.1:n.1097-27368_1097-27367...
ENST00000443427.5:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA ENSP00000387500.1:n.1097-27368_1097-27367...
ENST00000456483.3:c.*111-76703_*111-76702insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA ENSP00000415934.3:n.*111-76703_*111-76702...
NM_000125.3:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA NP_000116.2:n.1097-27368_1097-27367insGAA...
NM_001122740.1:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA NP_001116212.1:n.1097-27368_1097-27367ins...
NM_001122741.1:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA NP_001116213.1:n.1097-27368_1097-27367ins...
NM_001122742.1:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA NP_001116214.1:n.1097-27368_1097-27367ins...
NM_001291230.1:c.1103-27368_1103-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA NP_001278159.1:n.1103-27368_1103-27367ins...
NM_001291241.1:c.1094-27368_1094-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA NP_001278170.1:n.1094-27368_1094-27367ins...
XM_006715374.2:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA XP_006715437.1:n.1097-27368_1097-27367ins...
XM_006715375.2:c.578-27368_578-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA XP_006715438.1:n.578-27368_578-27367insGA...
XM_011535543.1:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA XP_011533845.1:n.1097-27368_1097-27367ins...
XM_011535544.1:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA XP_011533846.1:n.1097-27368_1097-27367ins...
XM_011535545.1:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA XP_011533847.1:n.1097-27368_1097-27367ins...
XM_011535546.1:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA XP_011533848.1:n.1097-27368_1097-27367ins...
XM_011535547.1:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA XP_011533849.1:n.1097-27368_1097-27367ins...
XM_011535548.1:c.578-27368_578-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA XP_011533850.1:n.578-27368_578-27367insGA...
XM_011535549.1:c.368-27368_368-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA XP_011533851.1:n.368-27368_368-27367insGA...
NM_001328100.1:c.578-27368_578-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA NP_001315029.1:n.578-27368_578-27367insGA...
XM_006715374.3:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA XP_006715437.1:n.1097-27368_1097-27367ins...
XM_006715375.3:c.578-27368_578-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA XP_006715438.1:n.578-27368_578-27367insGA...
XM_011535543.2:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA XP_011533845.1:n.1097-27368_1097-27367ins...
XM_011535544.2:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA XP_011533846.1:n.1097-27368_1097-27367ins...
XM_011535545.2:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA XP_011533847.1:n.1097-27368_1097-27367ins...
XM_011535547.2:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA XP_011533849.1:n.1097-27368_1097-27367ins...
XM_011535549.2:c.368-27368_368-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA XP_011533851.1:n.368-27368_368-27367insGA...
XM_017010376.1:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA XP_016865865.1:n.1097-27368_1097-27367ins...
XM_017010377.1:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA XP_016865866.1:n.1097-27368_1097-27367ins...
XM_017010378.1:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA XP_016865867.1:n.1097-27368_1097-27367ins...
XM_017010379.1:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA XP_016865868.1:n.1097-27368_1097-27367ins...
XM_017010380.1:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA XP_016865869.1:n.1097-27368_1097-27367ins...
XM_017010381.1:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA XP_016865870.1:n.1097-27368_1097-27367ins...
XM_017010382.2:c.440-27368_440-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA XP_016865871.1:n.440-27368_440-27367insGA...
XM_017010383.1:c.308-27368_308-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA XP_016865872.1:n.308-27368_308-27367insGA...
XR_001743223.2:n.1466+39780_1466+39781insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA
XR_002956266.1:n.1466+39780_1466+39781insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA
NM_000125.4:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA MANE Select NP_000116.2:n.1097-27368_1097-27367insGAA...
NM_001328100.2:c.578-27368_578-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA NP_001315029.1:n.578-27368_578-27367insGA...
NM_001122740.2:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA NP_001116212.1:n.1097-27368_1097-27367ins...
NM_001122741.2:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA NP_001116213.1:n.1097-27368_1097-27367ins...
NM_001122742.2:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA NP_001116214.1:n.1097-27368_1097-27367ins...
NM_001291230.2:c.1103-27368_1103-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA NP_001278159.1:n.1103-27368_1103-27367ins...
NM_001291241.2:c.1094-27368_1094-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA NP_001278170.1:n.1094-27368_1094-27367ins...
NM_001385568.1:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA NP_001372497.1:n.1097-27368_1097-27367ins...
NM_001385569.1:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA NP_001372498.1:n.1097-27368_1097-27367ins...
NM_001385570.1:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA NP_001372499.1:n.1097-27368_1097-27367ins...
NM_001385571.1:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA NP_001372500.1:n.1097-27368_1097-27367ins...
NM_001385572.1:c.1097-27368_1097-27367insGAATCACTTGAACCCAGGAGATGAAGACTGTAGTGAGCCGAGATTGCGCCACTGCACTCTAGCTGGGGCAACAGAGTGAGACTCTGTCTCAAAAA NP_001372501.1:n.1097-27368_1097-27367ins...
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