Canonical Allele Identifier: CA4052320

Gene: ESR1

Linked Data

• dbSNP Id: rs779747527
• ExAC: 6:152265426 AAGCCC / A
• gnomAD v2: 6-152265426-AAGCCC-A
• gnomAD v3: 6-151944291-AAGCCC-A
• gnomAD v4: 6-151944291-AAGCCC-A
• MyVariant Identifiers: chr6:g.152265427_152265431del (hg19) ; chr6:g.151944292_151944296del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151944292_151944296del , CM000668.2:g.151944292_151944296del	GRCh38
NC_000006.11:g.152265427_152265431del , CM000668.1:g.152265427_152265431del	GRCh37
NC_000006.10:g.152307120_152307124del	NCBI36
NG_008493.1:g.258797_258801del
NG_008493.2:g.292602_292606del

Transcript Alleles

HGVS	Amino-acid change
ENST00000206249.8:c.880_884del MANE Select	ENSP00000206249.3:p.Ser294AlafsTer7
ENST00000638569.1:c.42+43_42+47del	ENSP00000491412.1:n.42+43_42+47del
ENST00000641399.1:n.208_212del
ENST00000206249.7:c.880_884del	ENSP00000206249.3:p.Ser294AlafsTer7
ENST00000338799.9:c.880_884del	ENSP00000342630.5:p.Ser294AlafsTer7
ENST00000406599.5:c.453-116699_453-116695del	ENSP00000384064.1:n.453-116699_453-116695del
ENST00000415488.1:c.115+63521_115+63525del	ENSP00000401995.1:n.115+63521_115+63525del
ENST00000427531.6:c.361_365del	ENSP00000394721.2:p.Ser121AlafsTer7
ENST00000440973.5:c.880_884del	ENSP00000405330.1:p.Ser294AlafsTer7
ENST00000443427.5:c.880_884del	ENSP00000387500.1:p.Ser294AlafsTer7
ENST00000456483.3:c.*110+63521_*110+63525del	ENSP00000415934.3:n.*110+63521_*110+63525del
ENST00000482101.1:n.121_125del
NM_000125.3:c.880_884del	NP_000116.2:p.Ser294AlafsTer7
NM_001122740.1:c.880_884del	NP_001116212.1:p.Ser294AlafsTer7
NM_001122741.1:c.880_884del	NP_001116213.1:p.Ser294AlafsTer7
NM_001122742.1:c.880_884del	NP_001116214.1:p.Ser294AlafsTer7
NM_001291230.1:c.886_890del	NP_001278159.1:p.Ser296AlafsTer7
NM_001291241.1:c.877_881del	NP_001278170.1:p.Ser293AlafsTer7
XM_006715374.2:c.880_884del	XP_006715437.1:p.Ser294AlafsTer7
XM_006715375.2:c.361_365del	XP_006715438.1:p.Ser121AlafsTer7
XM_011535543.1:c.880_884del	XP_011533845.1:p.Ser294AlafsTer7
XM_011535544.1:c.880_884del	XP_011533846.1:p.Ser294AlafsTer7
XM_011535545.1:c.880_884del	XP_011533847.1:p.Ser294AlafsTer7
XM_011535546.1:c.880_884del	XP_011533848.1:p.Ser294AlafsTer7
XM_011535547.1:c.880_884del	XP_011533849.1:p.Ser294AlafsTer7
XM_011535548.1:c.361_365del	XP_011533850.1:p.Ser121AlafsTer7
XM_011535549.1:c.151_155del	XP_011533851.1:p.Ser51AlafsTer7
NM_001328100.1:c.361_365del	NP_001315029.1:p.Ser121AlafsTer7
XM_006715374.3:c.880_884del	XP_006715437.1:p.Ser294AlafsTer7
XM_006715375.3:c.361_365del	XP_006715438.1:p.Ser121AlafsTer7
XM_011535543.2:c.880_884del	XP_011533845.1:p.Ser294AlafsTer7
XM_011535544.2:c.880_884del	XP_011533846.1:p.Ser294AlafsTer7
XM_011535545.2:c.880_884del	XP_011533847.1:p.Ser294AlafsTer7
XM_011535547.2:c.880_884del	XP_011533849.1:p.Ser294AlafsTer7
XM_011535549.2:c.151_155del	XP_011533851.1:p.Ser51AlafsTer7
XM_017010376.1:c.880_884del	XP_016865865.1:p.Ser294AlafsTer7
XM_017010377.1:c.880_884del	XP_016865866.1:p.Ser294AlafsTer7
XM_017010378.1:c.880_884del	XP_016865867.1:p.Ser294AlafsTer7
XM_017010379.1:c.880_884del	XP_016865868.1:p.Ser294AlafsTer7
XM_017010380.1:c.880_884del	XP_016865869.1:p.Ser294AlafsTer7
XM_017010381.1:c.880_884del	XP_016865870.1:p.Ser294AlafsTer7
XM_017010382.2:c.223_227del	XP_016865871.1:p.Ser75AlafsTer7
XM_017010383.1:c.91_95del	XP_016865872.1:p.Ser31AlafsTer7
XR_001743223.2:n.1250_1254del
XR_002956266.1:n.1250_1254del
NM_000125.4:c.880_884del MANE Select	NP_000116.2:p.Ser294AlafsTer7
NM_001328100.2:c.361_365del	NP_001315029.1:p.Ser121AlafsTer7
NM_001122740.2:c.880_884del	NP_001116212.1:p.Ser294AlafsTer7
NM_001122741.2:c.880_884del	NP_001116213.1:p.Ser294AlafsTer7
NM_001122742.2:c.880_884del	NP_001116214.1:p.Ser294AlafsTer7
NM_001291230.2:c.886_890del	NP_001278159.1:p.Ser296AlafsTer7
NM_001291241.2:c.877_881del	NP_001278170.1:p.Ser293AlafsTer7
NM_001385568.1:c.880_884del	NP_001372497.1:p.Ser294AlafsTer7
NM_001385569.1:c.880_884del	NP_001372498.1:p.Ser294AlafsTer7
NM_001385570.1:c.880_884del	NP_001372499.1:p.Ser294AlafsTer7
NM_001385571.1:c.880_884del	NP_001372500.1:p.Ser294AlafsTer7
NM_001385572.1:c.880_884del	NP_001372501.1:p.Ser294AlafsTer7