Canonical Allele Identifier: CA2680805444

Gene: ESR1

Linked Data

• gnomAD v4: 6-151944506-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151944507_151944508del , CM000668.2:g.151944507_151944508del	GRCh38
NC_000006.11:g.152265642_152265643del , CM000668.1:g.152265642_152265643del	GRCh37
NC_000006.10:g.152307335_152307336del	NCBI36
NG_008493.1:g.259012_259013del
NG_008493.2:g.292817_292818del

Transcript Alleles

HGVS	Amino-acid change
ENST00000206249.8:c.1095_1096del MANE Select	ENSP00000206249.3:p.Gly366LeufsTer8
ENST00000638569.1:c.42+258_42+259del	ENSP00000491412.1:n.42+258_42+259del
ENST00000641399.1:n.423_424del
ENST00000206249.7:c.1095_1096del	ENSP00000206249.3:p.Gly366LeufsTer8
ENST00000338799.9:c.1095_1096del	ENSP00000342630.5:p.Gly366LeufsTer8
ENST00000406599.5:c.453-116484_453-116483del	ENSP00000384064.1:n.453-116484_453-116483...
ENST00000415488.1:c.115+63736_115+63737del	ENSP00000401995.1:n.115+63736_115+63737de...
ENST00000427531.6:c.576_577del	ENSP00000394721.2:p.Gly193LeufsTer8
ENST00000440973.5:c.1095_1096del	ENSP00000405330.1:p.Gly366LeufsTer8
ENST00000443427.5:c.1095_1096del	ENSP00000387500.1:p.Gly366LeufsTer8
ENST00000456483.3:c.*110+63736_*110+63737del	ENSP00000415934.3:n.*110+63736_*110+63737...
ENST00000482101.1:n.336_337del
NM_000125.3:c.1095_1096del	NP_000116.2:p.Gly366LeufsTer8
NM_001122740.1:c.1095_1096del	NP_001116212.1:p.Gly366LeufsTer8
NM_001122741.1:c.1095_1096del	NP_001116213.1:p.Gly366LeufsTer8
NM_001122742.1:c.1095_1096del	NP_001116214.1:p.Gly366LeufsTer8
NM_001291230.1:c.1101_1102del	NP_001278159.1:p.Gly368LeufsTer8
NM_001291241.1:c.1092_1093del	NP_001278170.1:p.Gly365LeufsTer8
XM_006715374.2:c.1095_1096del	XP_006715437.1:p.Gly366LeufsTer8
XM_006715375.2:c.576_577del	XP_006715438.1:p.Gly193LeufsTer8
XM_011535543.1:c.1095_1096del	XP_011533845.1:p.Gly366LeufsTer8
XM_011535544.1:c.1095_1096del	XP_011533846.1:p.Gly366LeufsTer8
XM_011535545.1:c.1095_1096del	XP_011533847.1:p.Gly366LeufsTer8
XM_011535546.1:c.1095_1096del	XP_011533848.1:p.Gly366LeufsTer8
XM_011535547.1:c.1095_1096del	XP_011533849.1:p.Gly366LeufsTer8
XM_011535548.1:c.576_577del	XP_011533850.1:p.Gly193LeufsTer8
XM_011535549.1:c.366_367del	XP_011533851.1:p.Gly123LeufsTer8
NM_001328100.1:c.576_577del	NP_001315029.1:p.Gly193LeufsTer8
XM_006715374.3:c.1095_1096del	XP_006715437.1:p.Gly366LeufsTer8
XM_006715375.3:c.576_577del	XP_006715438.1:p.Gly193LeufsTer8
XM_011535543.2:c.1095_1096del	XP_011533845.1:p.Gly366LeufsTer8
XM_011535544.2:c.1095_1096del	XP_011533846.1:p.Gly366LeufsTer8
XM_011535545.2:c.1095_1096del	XP_011533847.1:p.Gly366LeufsTer8
XM_011535547.2:c.1095_1096del	XP_011533849.1:p.Gly366LeufsTer8
XM_011535549.2:c.366_367del	XP_011533851.1:p.Gly123LeufsTer8
XM_017010376.1:c.1095_1096del	XP_016865865.1:p.Gly366LeufsTer8
XM_017010377.1:c.1095_1096del	XP_016865866.1:p.Gly366LeufsTer8
XM_017010378.1:c.1095_1096del	XP_016865867.1:p.Gly366LeufsTer8
XM_017010379.1:c.1095_1096del	XP_016865868.1:p.Gly366LeufsTer8
XM_017010380.1:c.1095_1096del	XP_016865869.1:p.Gly366LeufsTer8
XM_017010381.1:c.1095_1096del	XP_016865870.1:p.Gly366LeufsTer8
XM_017010382.2:c.438_439del	XP_016865871.1:p.Gly147LeufsTer8
XM_017010383.1:c.306_307del	XP_016865872.1:p.Gly103LeufsTer8
XR_001743223.2:n.1465_1466del
XR_002956266.1:n.1465_1466del
NM_000125.4:c.1095_1096del MANE Select	NP_000116.2:p.Gly366LeufsTer8
NM_001328100.2:c.576_577del	NP_001315029.1:p.Gly193LeufsTer8
NM_001122740.2:c.1095_1096del	NP_001116212.1:p.Gly366LeufsTer8
NM_001122741.2:c.1095_1096del	NP_001116213.1:p.Gly366LeufsTer8
NM_001122742.2:c.1095_1096del	NP_001116214.1:p.Gly366LeufsTer8
NM_001291230.2:c.1101_1102del	NP_001278159.1:p.Gly368LeufsTer8
NM_001291241.2:c.1092_1093del	NP_001278170.1:p.Gly365LeufsTer8
NM_001385568.1:c.1095_1096del	NP_001372497.1:p.Gly366LeufsTer8
NM_001385569.1:c.1095_1096del	NP_001372498.1:p.Gly366LeufsTer8
NM_001385570.1:c.1095_1096del	NP_001372499.1:p.Gly366LeufsTer8
NM_001385571.1:c.1095_1096del	NP_001372500.1:p.Gly366LeufsTer8
NM_001385572.1:c.1095_1096del	NP_001372501.1:p.Gly366LeufsTer8