Canonical Allele Identifier: CA571355859

Gene: ESR1

Linked Data

• dbSNP Id: rs1466881469
• gnomAD v2: 6-152355648-A-AC
• gnomAD v3: 6-152034513-A-AC
• gnomAD v4: 6-152034513-A-AC
• MyVariant Identifiers: chr6:g.152355648_152355649insC (hg19) ; chr6:g.152034513_152034514insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152034513_152034514insC , CM000668.2:g.152034513_152034514insC	GRCh38
NC_000006.11:g.152355648_152355649insC , CM000668.1:g.152355648_152355649insC	GRCh37
NC_000006.10:g.152397341_152397342insC	NCBI36
NG_008493.1:g.349018_349019insC
NG_008493.2:g.382823_382824insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206249.8:c.1235+22719_1235+22720insC MANE Select	ENSP00000206249.3:n.1235+22719_1235+22720insC
ENST00000638569.1:c.43-59966_43-59965insC	ENSP00000491412.1:n.43-59966_43-59965insC
ENST00000641399.1:n.563+22719_563+22720insC
ENST00000206249.7:c.1235+22719_1235+22720insC	ENSP00000206249.3:n.1235+22719_1235+22720insC
ENST00000338799.9:c.1235+22719_1235+22720insC	ENSP00000342630.5:n.1235+22719_1235+22720insC
ENST00000406599.5:c.453-26478_453-26477insC	ENSP00000384064.1:n.453-26478_453-26477insC
ENST00000415488.1:c.254+22719_254+22720insC	ENSP00000401995.1:n.254+22719_254+22720insC
ENST00000427531.6:c.716+22719_716+22720insC	ENSP00000394721.2:n.716+22719_716+22720insC
ENST00000440973.5:c.1235+22719_1235+22720insC	ENSP00000405330.1:n.1235+22719_1235+22720insC
ENST00000443427.5:c.1235+22719_1235+22720insC	ENSP00000387500.1:n.1235+22719_1235+22720insC
ENST00000456483.3:c.*111-26478_*111-26477insC	ENSP00000415934.3:n.*111-26478_*111-26477insC
NM_000125.3:c.1235+22719_1235+22720insC	NP_000116.2:n.1235+22719_1235+22720insC
NM_001122740.1:c.1235+22719_1235+22720insC	NP_001116212.1:n.1235+22719_1235+22720insC
NM_001122741.1:c.1235+22719_1235+22720insC	NP_001116213.1:n.1235+22719_1235+22720insC
NM_001122742.1:c.1235+22719_1235+22720insC	NP_001116214.1:n.1235+22719_1235+22720insC
NM_001291230.1:c.1241+22719_1241+22720insC	NP_001278159.1:n.1241+22719_1241+22720insC
NM_001291241.1:c.1232+22719_1232+22720insC	NP_001278170.1:n.1232+22719_1232+22720insC
XM_006715374.2:c.1235+22719_1235+22720insC	XP_006715437.1:n.1235+22719_1235+22720insC
XM_006715375.2:c.716+22719_716+22720insC	XP_006715438.1:n.716+22719_716+22720insC
XM_011535543.1:c.1235+22719_1235+22720insC	XP_011533845.1:n.1235+22719_1235+22720insC
XM_011535544.1:c.1235+22719_1235+22720insC	XP_011533846.1:n.1235+22719_1235+22720insC
XM_011535545.1:c.1235+22719_1235+22720insC	XP_011533847.1:n.1235+22719_1235+22720insC
XM_011535546.1:c.1235+22719_1235+22720insC	XP_011533848.1:n.1235+22719_1235+22720insC
XM_011535547.1:c.1235+22719_1235+22720insC	XP_011533849.1:n.1235+22719_1235+22720insC
XM_011535548.1:c.716+22719_716+22720insC	XP_011533850.1:n.716+22719_716+22720insC
XM_011535549.1:c.506+22719_506+22720insC	XP_011533851.1:n.506+22719_506+22720insC
NM_001328100.1:c.716+22719_716+22720insC	NP_001315029.1:n.716+22719_716+22720insC
XM_006715374.3:c.1235+22719_1235+22720insC	XP_006715437.1:n.1235+22719_1235+22720insC
XM_006715375.3:c.716+22719_716+22720insC	XP_006715438.1:n.716+22719_716+22720insC
XM_011535543.2:c.1235+22719_1235+22720insC	XP_011533845.1:n.1235+22719_1235+22720insC
XM_011535544.2:c.1235+22719_1235+22720insC	XP_011533846.1:n.1235+22719_1235+22720insC
XM_011535545.2:c.1235+22719_1235+22720insC	XP_011533847.1:n.1235+22719_1235+22720insC
XM_011535547.2:c.1235+22719_1235+22720insC	XP_011533849.1:n.1235+22719_1235+22720insC
XM_011535549.2:c.506+22719_506+22720insC	XP_011533851.1:n.506+22719_506+22720insC
XM_017010376.1:c.1235+22719_1235+22720insC	XP_016865865.1:n.1235+22719_1235+22720insC
XM_017010377.1:c.1235+22719_1235+22720insC	XP_016865866.1:n.1235+22719_1235+22720insC
XM_017010378.1:c.1235+22719_1235+22720insC	XP_016865867.1:n.1235+22719_1235+22720insC
XM_017010379.1:c.1235+22719_1235+22720insC	XP_016865868.1:n.1235+22719_1235+22720insC
XM_017010380.1:c.1235+22719_1235+22720insC	XP_016865869.1:n.1235+22719_1235+22720insC
XM_017010381.1:c.1235+22719_1235+22720insC	XP_016865870.1:n.1235+22719_1235+22720insC
XM_017010382.2:c.578+22719_578+22720insC	XP_016865871.1:n.578+22719_578+22720insC
XM_017010383.1:c.446+22719_446+22720insC	XP_016865872.1:n.446+22719_446+22720insC
XR_001743223.2:n.1467-26478_1467-26477insC
XR_002956266.1:n.1467-26478_1467-26477insC
NM_000125.4:c.1235+22719_1235+22720insC MANE Select	NP_000116.2:n.1235+22719_1235+22720insC
NM_001328100.2:c.716+22719_716+22720insC	NP_001315029.1:n.716+22719_716+22720insC
NM_001122740.2:c.1235+22719_1235+22720insC	NP_001116212.1:n.1235+22719_1235+22720insC
NM_001122741.2:c.1235+22719_1235+22720insC	NP_001116213.1:n.1235+22719_1235+22720insC
NM_001122742.2:c.1235+22719_1235+22720insC	NP_001116214.1:n.1235+22719_1235+22720insC
NM_001291230.2:c.1241+22719_1241+22720insC	NP_001278159.1:n.1241+22719_1241+22720insC
NM_001291241.2:c.1232+22719_1232+22720insC	NP_001278170.1:n.1232+22719_1232+22720insC
NM_001385568.1:c.1235+22719_1235+22720insC	NP_001372497.1:n.1235+22719_1235+22720insC
NM_001385569.1:c.1235+22719_1235+22720insC	NP_001372498.1:n.1235+22719_1235+22720insC
NM_001385570.1:c.1235+22719_1235+22720insC	NP_001372499.1:n.1235+22719_1235+22720insC
NM_001385571.1:c.1235+22719_1235+22720insC	NP_001372500.1:n.1235+22719_1235+22720insC
NM_001385572.1:c.1235+22719_1235+22720insC	NP_001372501.1:n.1235+22719_1235+22720insC