Canonical Allele Identifier: CA1095911826

Gene: ESR1

Linked Data

• dbSNP Id: rs2035438940
• gnomAD v3: 6-151944150-T-TC
• gnomAD v4: 6-151944150-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151944150_151944151insC , CM000668.2:g.151944150_151944151insC	GRCh38
NC_000006.11:g.152265285_152265286insC , CM000668.1:g.152265285_152265286insC	GRCh37
NC_000006.10:g.152306978_152306979insC	NCBI36
NG_008493.1:g.258655_258656insC
NG_008493.2:g.292460_292461insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206249.8:c.761-23_761-22insC MANE Select	ENSP00000206249.3:n.761-23_761-22insC
ENST00000641399.1:n.89-23_89-22insC
ENST00000206249.7:c.761-23_761-22insC	ENSP00000206249.3:n.761-23_761-22insC
ENST00000338799.9:c.761-23_761-22insC	ENSP00000342630.5:n.761-23_761-22insC
ENST00000406599.5:c.453-116841_453-116840insC	ENSP00000384064.1:n.453-116841_453-116840insC
ENST00000415488.1:c.115+63379_115+63380insC	ENSP00000401995.1:n.115+63379_115+63380insC
ENST00000427531.6:c.242-23_242-22insC	ENSP00000394721.2:n.242-23_242-22insC
ENST00000440973.5:c.761-23_761-22insC	ENSP00000405330.1:n.761-23_761-22insC
ENST00000443427.5:c.761-23_761-22insC	ENSP00000387500.1:n.761-23_761-22insC
ENST00000456483.3:c.*110+63379_*110+63380insC	ENSP00000415934.3:n.*110+63379_*110+63380insC
NM_000125.3:c.761-23_761-22insC	NP_000116.2:n.761-23_761-22insC
NM_001122740.1:c.761-23_761-22insC	NP_001116212.1:n.761-23_761-22insC
NM_001122741.1:c.761-23_761-22insC	NP_001116213.1:n.761-23_761-22insC
NM_001122742.1:c.761-23_761-22insC	NP_001116214.1:n.761-23_761-22insC
NM_001291230.1:c.767-23_767-22insC	NP_001278159.1:n.767-23_767-22insC
NM_001291241.1:c.758-23_758-22insC	NP_001278170.1:n.758-23_758-22insC
XM_006715374.2:c.761-23_761-22insC	XP_006715437.1:n.761-23_761-22insC
XM_006715375.2:c.242-23_242-22insC	XP_006715438.1:n.242-23_242-22insC
XM_011535543.1:c.761-23_761-22insC	XP_011533845.1:n.761-23_761-22insC
XM_011535544.1:c.761-23_761-22insC	XP_011533846.1:n.761-23_761-22insC
XM_011535545.1:c.761-23_761-22insC	XP_011533847.1:n.761-23_761-22insC
XM_011535546.1:c.761-23_761-22insC	XP_011533848.1:n.761-23_761-22insC
XM_011535547.1:c.761-23_761-22insC	XP_011533849.1:n.761-23_761-22insC
XM_011535548.1:c.242-23_242-22insC	XP_011533850.1:n.242-23_242-22insC
XM_011535549.1:c.32-23_32-22insC	XP_011533851.1:n.32-23_32-22insC
NM_001328100.1:c.242-23_242-22insC	NP_001315029.1:n.242-23_242-22insC
XM_006715374.3:c.761-23_761-22insC	XP_006715437.1:n.761-23_761-22insC
XM_006715375.3:c.242-23_242-22insC	XP_006715438.1:n.242-23_242-22insC
XM_011535543.2:c.761-23_761-22insC	XP_011533845.1:n.761-23_761-22insC
XM_011535544.2:c.761-23_761-22insC	XP_011533846.1:n.761-23_761-22insC
XM_011535545.2:c.761-23_761-22insC	XP_011533847.1:n.761-23_761-22insC
XM_011535547.2:c.761-23_761-22insC	XP_011533849.1:n.761-23_761-22insC
XM_011535549.2:c.32-23_32-22insC	XP_011533851.1:n.32-23_32-22insC
XM_017010376.1:c.761-23_761-22insC	XP_016865865.1:n.761-23_761-22insC
XM_017010377.1:c.761-23_761-22insC	XP_016865866.1:n.761-23_761-22insC
XM_017010378.1:c.761-23_761-22insC	XP_016865867.1:n.761-23_761-22insC
XM_017010379.1:c.761-23_761-22insC	XP_016865868.1:n.761-23_761-22insC
XM_017010380.1:c.761-23_761-22insC	XP_016865869.1:n.761-23_761-22insC
XM_017010381.1:c.761-23_761-22insC	XP_016865870.1:n.761-23_761-22insC
XM_017010382.2:c.104-23_104-22insC	XP_016865871.1:n.104-23_104-22insC
XM_017010383.1:c.-29-23_-29-22insC	XP_016865872.1:n.-29-23_-29-22insC
XR_001743223.2:n.1131-23_1131-22insC
XR_002956266.1:n.1131-23_1131-22insC
NM_000125.4:c.761-23_761-22insC MANE Select	NP_000116.2:n.761-23_761-22insC
NM_001328100.2:c.242-23_242-22insC	NP_001315029.1:n.242-23_242-22insC
NM_001122740.2:c.761-23_761-22insC	NP_001116212.1:n.761-23_761-22insC
NM_001122741.2:c.761-23_761-22insC	NP_001116213.1:n.761-23_761-22insC
NM_001122742.2:c.761-23_761-22insC	NP_001116214.1:n.761-23_761-22insC
NM_001291230.2:c.767-23_767-22insC	NP_001278159.1:n.767-23_767-22insC
NM_001291241.2:c.758-23_758-22insC	NP_001278170.1:n.758-23_758-22insC
NM_001385568.1:c.761-23_761-22insC	NP_001372497.1:n.761-23_761-22insC
NM_001385569.1:c.761-23_761-22insC	NP_001372498.1:n.761-23_761-22insC
NM_001385570.1:c.761-23_761-22insC	NP_001372499.1:n.761-23_761-22insC
NM_001385571.1:c.761-23_761-22insC	NP_001372500.1:n.761-23_761-22insC
NM_001385572.1:c.761-23_761-22insC	NP_001372501.1:n.761-23_761-22insC