Canonical Allele Identifier: CA820847943

Gene: ESR1

Linked Data

• dbSNP Id: rs1297136465
• gnomAD v3: 6-151949453-TGTG-T
• gnomAD v4: 6-151949453-TGTG-T
• MyVariant Identifiers: chr6:g.152270589_152270591del (hg19) ; chr6:g.151949454_151949456del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151949457_151949459del , CM000668.2:g.151949457_151949459del	GRCh38
NC_000006.11:g.152270592_152270594del , CM000668.1:g.152270592_152270594del	GRCh37
NC_000006.10:g.152312285_152312287del	NCBI36
NG_008493.1:g.263962_263964del
NG_008493.2:g.297767_297769del

Transcript Alleles

HGVS	Amino-acid change
ENST00000206249.8:c.1096+4949_1096+4951del MANE Select	ENSP00000206249.3:n.1096+4949_1096+4951de...
ENST00000638569.1:c.42+5208_42+5210del	ENSP00000491412.1:n.42+5208_42+5210del
ENST00000641399.1:n.424+4949_424+4951del
ENST00000206249.7:c.1096+4949_1096+4951del	ENSP00000206249.3:n.1096+4949_1096+4951de...
ENST00000338799.9:c.1096+4949_1096+4951del	ENSP00000342630.5:n.1096+4949_1096+4951de...
ENST00000406599.5:c.453-111534_453-111532del	ENSP00000384064.1:n.453-111534_453-111532...
ENST00000415488.1:c.116-62199_116-62197del	ENSP00000401995.1:n.116-62199_116-62197de...
ENST00000427531.6:c.577+4949_577+4951del	ENSP00000394721.2:n.577+4949_577+4951del
ENST00000440973.5:c.1096+4949_1096+4951del	ENSP00000405330.1:n.1096+4949_1096+4951de...
ENST00000443427.5:c.1096+4949_1096+4951del	ENSP00000387500.1:n.1096+4949_1096+4951de...
ENST00000456483.3:c.*110+68686_*110+68688del	ENSP00000415934.3:n.*110+68686_*110+68688...
ENST00000482101.1:n.337+4949_337+4951del
NM_000125.3:c.1096+4949_1096+4951del	NP_000116.2:n.1096+4949_1096+4951del
NM_001122740.1:c.1096+4949_1096+4951del	NP_001116212.1:n.1096+4949_1096+4951del
NM_001122741.1:c.1096+4949_1096+4951del	NP_001116213.1:n.1096+4949_1096+4951del
NM_001122742.1:c.1096+4949_1096+4951del	NP_001116214.1:n.1096+4949_1096+4951del
NM_001291230.1:c.1102+4949_1102+4951del	NP_001278159.1:n.1102+4949_1102+4951del
NM_001291241.1:c.1093+4949_1093+4951del	NP_001278170.1:n.1093+4949_1093+4951del
XM_006715374.2:c.1096+4949_1096+4951del	XP_006715437.1:n.1096+4949_1096+4951del
XM_006715375.2:c.577+4949_577+4951del	XP_006715438.1:n.577+4949_577+4951del
XM_011535543.1:c.1096+4949_1096+4951del	XP_011533845.1:n.1096+4949_1096+4951del
XM_011535544.1:c.1096+4949_1096+4951del	XP_011533846.1:n.1096+4949_1096+4951del
XM_011535545.1:c.1096+4949_1096+4951del	XP_011533847.1:n.1096+4949_1096+4951del
XM_011535546.1:c.1096+4949_1096+4951del	XP_011533848.1:n.1096+4949_1096+4951del
XM_011535547.1:c.1096+4949_1096+4951del	XP_011533849.1:n.1096+4949_1096+4951del
XM_011535548.1:c.577+4949_577+4951del	XP_011533850.1:n.577+4949_577+4951del
XM_011535549.1:c.367+4949_367+4951del	XP_011533851.1:n.367+4949_367+4951del
NM_001328100.1:c.577+4949_577+4951del	NP_001315029.1:n.577+4949_577+4951del
XM_006715374.3:c.1096+4949_1096+4951del	XP_006715437.1:n.1096+4949_1096+4951del
XM_006715375.3:c.577+4949_577+4951del	XP_006715438.1:n.577+4949_577+4951del
XM_011535543.2:c.1096+4949_1096+4951del	XP_011533845.1:n.1096+4949_1096+4951del
XM_011535544.2:c.1096+4949_1096+4951del	XP_011533846.1:n.1096+4949_1096+4951del
XM_011535545.2:c.1096+4949_1096+4951del	XP_011533847.1:n.1096+4949_1096+4951del
XM_011535547.2:c.1096+4949_1096+4951del	XP_011533849.1:n.1096+4949_1096+4951del
XM_011535549.2:c.367+4949_367+4951del	XP_011533851.1:n.367+4949_367+4951del
XM_017010376.1:c.1096+4949_1096+4951del	XP_016865865.1:n.1096+4949_1096+4951del
XM_017010377.1:c.1096+4949_1096+4951del	XP_016865866.1:n.1096+4949_1096+4951del
XM_017010378.1:c.1096+4949_1096+4951del	XP_016865867.1:n.1096+4949_1096+4951del
XM_017010379.1:c.1096+4949_1096+4951del	XP_016865868.1:n.1096+4949_1096+4951del
XM_017010380.1:c.1096+4949_1096+4951del	XP_016865869.1:n.1096+4949_1096+4951del
XM_017010381.1:c.1096+4949_1096+4951del	XP_016865870.1:n.1096+4949_1096+4951del
XM_017010382.2:c.439+4949_439+4951del	XP_016865871.1:n.439+4949_439+4951del
XM_017010383.1:c.307+4949_307+4951del	XP_016865872.1:n.307+4949_307+4951del
XR_001743223.2:n.1466+4949_1466+4951del
XR_002956266.1:n.1466+4949_1466+4951del
NM_000125.4:c.1096+4949_1096+4951del MANE Select	NP_000116.2:n.1096+4949_1096+4951del
NM_001328100.2:c.577+4949_577+4951del	NP_001315029.1:n.577+4949_577+4951del
NM_001122740.2:c.1096+4949_1096+4951del	NP_001116212.1:n.1096+4949_1096+4951del
NM_001122741.2:c.1096+4949_1096+4951del	NP_001116213.1:n.1096+4949_1096+4951del
NM_001122742.2:c.1096+4949_1096+4951del	NP_001116214.1:n.1096+4949_1096+4951del
NM_001291230.2:c.1102+4949_1102+4951del	NP_001278159.1:n.1102+4949_1102+4951del
NM_001291241.2:c.1093+4949_1093+4951del	NP_001278170.1:n.1093+4949_1093+4951del
NM_001385568.1:c.1096+4949_1096+4951del	NP_001372497.1:n.1096+4949_1096+4951del
NM_001385569.1:c.1096+4949_1096+4951del	NP_001372498.1:n.1096+4949_1096+4951del
NM_001385570.1:c.1096+4949_1096+4951del	NP_001372499.1:n.1096+4949_1096+4951del
NM_001385571.1:c.1096+4949_1096+4951del	NP_001372500.1:n.1096+4949_1096+4951del
NM_001385572.1:c.1096+4949_1096+4951del	NP_001372501.1:n.1096+4949_1096+4951del