Canonical Allele Identifier: CA2680805443

Gene: ESR1

Linked Data

• gnomAD v4: 6-151944465-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151944466_151944467del , CM000668.2:g.151944466_151944467del	GRCh38
NC_000006.11:g.152265601_152265602del , CM000668.1:g.152265601_152265602del	GRCh37
NC_000006.10:g.152307294_152307295del	NCBI36
NG_008493.1:g.258971_258972del
NG_008493.2:g.292776_292777del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206249.8:c.1054_1055del MANE Select	ENSP00000206249.3:p.Arg352GlyfsTer22
ENST00000638569.1:c.42+217_42+218del	ENSP00000491412.1:n.42+217_42+218del
ENST00000641399.1:n.382_383del
ENST00000206249.7:c.1054_1055del	ENSP00000206249.3:p.Arg352GlyfsTer22
ENST00000338799.9:c.1054_1055del	ENSP00000342630.5:p.Arg352GlyfsTer22
ENST00000406599.5:c.453-116525_453-116524del	ENSP00000384064.1:n.453-116525_453-116524del
ENST00000415488.1:c.115+63695_115+63696del	ENSP00000401995.1:n.115+63695_115+63696del
ENST00000427531.6:c.535_536del	ENSP00000394721.2:p.Arg179GlyfsTer22
ENST00000440973.5:c.1054_1055del	ENSP00000405330.1:p.Arg352GlyfsTer22
ENST00000443427.5:c.1054_1055del	ENSP00000387500.1:p.Arg352GlyfsTer22
ENST00000456483.3:c.*110+63695_*110+63696del	ENSP00000415934.3:n.*110+63695_*110+63696del
ENST00000482101.1:n.295_296del
NM_000125.3:c.1054_1055del	NP_000116.2:p.Arg352GlyfsTer22
NM_001122740.1:c.1054_1055del	NP_001116212.1:p.Arg352GlyfsTer22
NM_001122741.1:c.1054_1055del	NP_001116213.1:p.Arg352GlyfsTer22
NM_001122742.1:c.1054_1055del	NP_001116214.1:p.Arg352GlyfsTer22
NM_001291230.1:c.1060_1061del	NP_001278159.1:p.Arg354GlyfsTer22
NM_001291241.1:c.1051_1052del	NP_001278170.1:p.Arg351GlyfsTer22
XM_006715374.2:c.1054_1055del	XP_006715437.1:p.Arg352GlyfsTer22
XM_006715375.2:c.535_536del	XP_006715438.1:p.Arg179GlyfsTer22
XM_011535543.1:c.1054_1055del	XP_011533845.1:p.Arg352GlyfsTer22
XM_011535544.1:c.1054_1055del	XP_011533846.1:p.Arg352GlyfsTer22
XM_011535545.1:c.1054_1055del	XP_011533847.1:p.Arg352GlyfsTer22
XM_011535546.1:c.1054_1055del	XP_011533848.1:p.Arg352GlyfsTer22
XM_011535547.1:c.1054_1055del	XP_011533849.1:p.Arg352GlyfsTer22
XM_011535548.1:c.535_536del	XP_011533850.1:p.Arg179GlyfsTer22
XM_011535549.1:c.325_326del	XP_011533851.1:p.Arg109GlyfsTer22
NM_001328100.1:c.535_536del	NP_001315029.1:p.Arg179GlyfsTer22
XM_006715374.3:c.1054_1055del	XP_006715437.1:p.Arg352GlyfsTer22
XM_006715375.3:c.535_536del	XP_006715438.1:p.Arg179GlyfsTer22
XM_011535543.2:c.1054_1055del	XP_011533845.1:p.Arg352GlyfsTer22
XM_011535544.2:c.1054_1055del	XP_011533846.1:p.Arg352GlyfsTer22
XM_011535545.2:c.1054_1055del	XP_011533847.1:p.Arg352GlyfsTer22
XM_011535547.2:c.1054_1055del	XP_011533849.1:p.Arg352GlyfsTer22
XM_011535549.2:c.325_326del	XP_011533851.1:p.Arg109GlyfsTer22
XM_017010376.1:c.1054_1055del	XP_016865865.1:p.Arg352GlyfsTer22
XM_017010377.1:c.1054_1055del	XP_016865866.1:p.Arg352GlyfsTer22
XM_017010378.1:c.1054_1055del	XP_016865867.1:p.Arg352GlyfsTer22
XM_017010379.1:c.1054_1055del	XP_016865868.1:p.Arg352GlyfsTer22
XM_017010380.1:c.1054_1055del	XP_016865869.1:p.Arg352GlyfsTer22
XM_017010381.1:c.1054_1055del	XP_016865870.1:p.Arg352GlyfsTer22
XM_017010382.2:c.397_398del	XP_016865871.1:p.Arg133GlyfsTer22
XM_017010383.1:c.265_266del	XP_016865872.1:p.Arg89GlyfsTer22
XR_001743223.2:n.1424_1425del
XR_002956266.1:n.1424_1425del
NM_000125.4:c.1054_1055del MANE Select	NP_000116.2:p.Arg352GlyfsTer22
NM_001328100.2:c.535_536del	NP_001315029.1:p.Arg179GlyfsTer22
NM_001122740.2:c.1054_1055del	NP_001116212.1:p.Arg352GlyfsTer22
NM_001122741.2:c.1054_1055del	NP_001116213.1:p.Arg352GlyfsTer22
NM_001122742.2:c.1054_1055del	NP_001116214.1:p.Arg352GlyfsTer22
NM_001291230.2:c.1060_1061del	NP_001278159.1:p.Arg354GlyfsTer22
NM_001291241.2:c.1051_1052del	NP_001278170.1:p.Arg351GlyfsTer22
NM_001385568.1:c.1054_1055del	NP_001372497.1:p.Arg352GlyfsTer22
NM_001385569.1:c.1054_1055del	NP_001372498.1:p.Arg352GlyfsTer22
NM_001385570.1:c.1054_1055del	NP_001372499.1:p.Arg352GlyfsTer22
NM_001385571.1:c.1054_1055del	NP_001372500.1:p.Arg352GlyfsTer22
NM_001385572.1:c.1054_1055del	NP_001372501.1:p.Arg352GlyfsTer22